Release notes and usage changes

Updates from previous releases

Release 202503.02

Type

Description

Feature

Introduced β-version of Pangenome pipeline with accelerated alignment.

Feature

Improved InsertSizeMetricAlgo to include single-end consensus reads in the insert size metrics calculation.

Bug-fix

Solved issue in GVCFtyper that caused a third-party tool fail when InbreedingCoeff is -nan.

Bug-fix

Solved issue in Consensus Dedup that caused a segmentation fault when the input is RNA reads with UMI.

Bug-fix

Solved issue in TNscope with PoN filtering that incorrectly filtered variants based on locus.

Bug-fix

Removed unnecessary environment variables in plot.

Release 202503.01

Type

Description

Feature

Improved DNAscope model apply speed substantially.

Bug-fix

Solved issue in TNscope that could call a false positive in somatic amplicon data.

Bug-fix

Solved issue that could produce malformed CRAM file under rare circumstances.

Bug-fix

Solved issue in Consensus-based Dedup that could cause an assertion failure when the input is RNA reads with UMI.

Bug-fix

Solved issue in DNAscope that caused a segmentation fault when a machine learning model is used on a non-human sample.

Release 202503

Type

Description

Feature

Added support for hybrid short and long-read variant calling.

Feature

Added support for reading and writing CRAM version 3.1 files.

Feature

Added support in GVCFtyper algorithm for joint calling DNAscope GVCFs from long reads pipeline.

Feature

Added support in TNscope algorithm to output FAD, F1R2, and F2R1 annotations.

Feature

Added option in GCBias and AlignmentStat algorithms to match with Picard IS_BISULFITE_SEQUENCED option.

Feature

Reduced memory utilization in HsMetricAlgo algorithm.

Bug-fix

Solved issue in driver where minor inconsistencies in alignment @SQ records can cause an error.

Bug-fix

Solved issue in consensus Dedup where paired consensus reads may not have matching read names.

Bug-fix

Solved issue in LongReadSV algorithm that could cause a crash under rare circumstances.

Bug-fix

Solved issue in DNAscope and Haplotyper that could cause an assertion when using the –bam_output option.

Bug-fix

Solved issue in consensus Dedup that would cause the job to hang when –metrics is turned on.

Bug-fix

Solved issue in TNhaplotyper2 in given mode that may produce incorrect results.

Bug-fix

Solved issue in TNscope that missed low-AF variants at the site of germline homozygous variants.

Other

Removed umi consensus from the software package.

Other

Removed gnuplot binary from the software package.

Release 202308.03

Type

Description

Feature

Support STAR for ARM based CPUs.

Feature

Support minimap2 for ARM based CPUs.

Feature

Optimized performance of DNAModelApply on some newer ARM CPUs.

Feature

Added read filter SimplifyCigarTransform to simplify and standardize cigars.

Feature

Added support for consensus and UMI-aware deduplication metrics in Dedup.

Bug-fix

Solved issue in util sort to handle empty type Z and type H tags in input SAM records.

Bug-fix

Solved some phasing issues in the long-reads DNAscope pipeline.

Bug-fix

Solved potential stack overflow issue when input bam depth is extremely high.

Release 202308.02

Type

Description

Feature

Added support in Haplotyper algorithm to output RAW_MQandDP annotation.

Feature

Added support in GVCFtyper algorithm for gVCFs containing the RAW_MQandDP annotation.

Bug-fix

Solved an issue in GVCFtyper that could cause an assertion when input gVCF file’s tbi index is from third-party tool.

Bug-fix

Solved issue in GVCFtyper that could cause a segmentation fault when input gVCF file is from CombineGVCFs.

Bug-fix

Solved issue in TNscope that may miss large INDELs in single-end sequencing data.

Release 202308.01

Type

Description

Feature

Added support in TNhaplotyper2 algorithm to run in distributed mode.

Feature

Added support in ContaminationModel algorithm to run in distributed mode.

Feature

Added support in OrientationBias algorithm to run in distributed mode.

Feature

Added support for CSI index for compressed VCF files.

Feature

Maintenance update of GeneEditEvaluator.

Feature

Added better error message in util sort when input fastq to aligner is not legitimate.

Bug-fix

Solved issue in Haplotyper that could cause an error when using the –bam_output option.

Bug-fix

Solved issue in TNscope where variants may report incorrect annotations under rare circumstances.

Bug-fix

Solved issue in LongReadSV that failed to report variants in non-canonical chromosomes.

Bug-fix

Solved issue in util sort when –output_format CRAM is used without a reference.

Release 202308

Type

Description

Feature

Improved DNAscope pipeline speed and accuracy with a BWA model.

Feature

Improved long-reads DNAscope pipeline speed and accuracy with minimap2 models.

Feature

Improved speed of STAR when input format is SAM.

Feature

Improved speed of deduplication on RNA data.

Feature

Improved consensus based deduplication and UMI barcode aware deduplication for RNA data.

Feature

Improved consensus of INDELs in Dedup algorithm.

Feature

Improved speed of DNAscope on long-reads small variant call.

Feature

Improved machine learning model for TNscope.

Feature

Introduced LongReadUtil to extract cell barcode from Oxford Nanopore single-cell RNA data.

Feature

Introduced α-version of GeneEditEvaluator algorithm for genome editing sequence analysis.

Feature

Added support in Dedup to handle INDEL errors in barcode.

Feature

Added support to encapsulate multiple machine learning models into a single file.

Feature

Added support in GVCFtyper to output PL and ML FORMAT fields.

Feature

Added support in umi extract to output SAM format.

Feature

Added support for small variant calling on Oxford Nanopore data.

Feature

Maintenance update of STAR.

Feature

Maintenance update of minimap2.

Feature

Reduced memory utilization in util sort for long reads.

Bug-fix

Solved an issue in umi consensus that could cause an assertion failure under rare circumstances.

Bug-fix

Solved issue in DNAscope that may filter softclip reads at high coverage sites.

Release 202112.07

Type

Description

Feature

Introduced β-version of consensus based deduplication and UMI barcode aware deduplication for RNA data.

Bug-fix

Solved an issue in Dedup that could cause an assertion failure when the output format is CRAM.

Bug-fix

Solved issue in util sort to handle type B tags in input SAM records.

Bug-fix

Improved license server fault tolerance upon extreme high usage demand.

Release 202112.06

Type

Description

Feature

Added support in LocusCollector and Dedup algorithms to perform consensus based deduplication as well as UMI barcode aware deduplication.

Feature

Added support in Dedup algorithm to perform UMI barcode error correction.

Feature

Added support in GVCFtyper for joint calling DNAscope GVCFs from multiple sequencing platforms into a single multi-sample VCF.

Feature

Added support in GVCFtyper for gVCF files without PL fields.

Feature

Added support in LongReadSV algorithm to process Oxford Nanopore long reads in addition to PacBio HiFi long reads.

Feature

Improved TNscope SV to better handle different representations of the same alignment.

Bug-fix

Solved issue in umi consensus that could cause a segmentation fault when input has 0-length read.

Bug-fix

Solved issue in GVCFtyper that would produce <NON_REF> alleles under rare circumstances.

Bug-fix

Solved issue that Plot GCBias was left-shifted on some datasets.

Release 202112.05

Type

Description

Feature

Maintenance update of UltimaReadFilter.

Feature

Added option in TNscope to control adapter trimming.

Feature

Added environment variable in bwa mem for bug compatibility.

Feature

Added wrapper script for STAR in the bin directory to remove the requirement of setting LD_LIBRARY_PATH.

Bug-fix

Solved issue in STAR that printed out extra information with the argument –version.

Bug-fix

Solved issue in duplex umi consensus that could output zero-length reads.

Bug-fix

Solved issue in umi consensus that slowed down execution under rare circumstances.

Bug-fix

Solved issue in TNscope such that evidence from overlapping read pairs were not adequately accounted for.

Release 202112.04

Type

Description

Feature

Added support for DNAscope with machine learning model to generate gVCF file for subsequent joint call.

Feature

Introduced β-version of LongReadSV algorithm to perform germline structure variant call for long reads.

Feature

Added options in InsertSizeMetricAlgo to control the threshold to output FR, TANDEM, RF.

Feature

Maintenance update of read filter.

Feature

Improved reference assembly detection logic.

Release 202112.02

Type

Description

Feature

A license framework to support multiple sequencing platforms.

Feature

Improved bwa-mem speed on certain ARM CPU.

Bug-fix

Solved issue in GVCFtyper that would produce no-calls in certain ploidies when input is a multi-sample merged gVCF from third party tool.

Bug-fix

Solved issue in DNAscope that could produce no call at zero coverage site when using –given.

Bug-fix

Solved issue that triggered CRAM buffer overflow when minimap2 output zero-length secondary reads.

Bug-fix

Solved issue in minimap2 that would cause the job to hang under rare circumstances.

Release 202112.01

Type

Description

Feature

Improved accuracy of DNAscope machine learning model compared to NIST truth-sets v4.2.1.

Bug-fix

Solved issue in TNscope that missed SNPs with 1% AF under very sensitive settings.

Bug-fix

Solved issue in TNscope that failed to report variants when the sequence length is shorter than 30bp.

Bug-fix

Solved issue in TNscope that could report incorrect AF number for Amplicon data.

Bug-fix

Solved issue in umi consensus that could cause a crash under rare circumstances.

Bug-fix

Added additional error checks and error reporting in util sort.

Release 202112

Type

Description

Feature

Improved speed of bwa mem.

Feature

Improved speed of minimap2 when -x splice:hq argument is used.

Feature

Improved speed of LocusCollector when input bam has huge number of contigs.

Feature

Implemented a low memory usage mode for extremely large GVCFtyper jobs.

Feature

Added option in TNhaplotyper2 to match with GATK –genotype-germline-sites option.

Feature

Added ELEMENT platform to support Element Biosciences sequencers.

Feature

Modified TNscope® AF output format.

Feature

Added support in GVCFtyper to take multi-sample gVCF files with coverage gaps.

Bug-fix

Solved matching issue in STAR when using non-default value for chimMultimapNmax.

Bug-fix

Solved buffer overflow issue in STAR due to base count difference between input R1 and R2.

Bug-fix

Solved issue in TNhaplotyer2 that could cause matching difference with GATK-4.2.0.0 when the input bam has high QUAL N bases.

Bug-fix

Solved issue in TNhaplotyper2 that could cause a crash under rare circumstances.

Bug-fix

Solved minor matching issue in median annotations in TNhaplotyper2.

Bug-fix

Solved issue that triggered stack overflow when input bam has substantially dense region.

Bug-fix

Solved issue in duplex umi consensus that results depend on internal data order.

Bug-fix

Added additional error checks and error reporting.

Release 202010.04

Type

Description

Feature

Improved speed of Minimap2.

Feature

Mantainance update of Minimap2

Bug-fix

Solved issue in VariantPhaser that could cause a crash under rare circumstances.

Bug-fix

Solved issue in VariantPhaser that could output variants out of order.

Bug-fix

Solved issue in DNAscope that could cause an error when running with HiFi data.

Bug-fix

Reduced memory utilization in DNAscope when using HiFi data aligned with minimap 2.22.

Bug-fix

Added additional error checks and error reporting.

Bug-fix

Updated sentieon wrapper to default to use python system binary, then python3 and last python2.

Release 202010.03

Type

Description

Feature

Introduced β-version of PacBio HiFi reads pipeline.

Feature

Introduced β-version of VariantPhaser tool to do read-based phasing for long reads.

Feature

Introduced β-version of minimap2 aligner for PacBio and Nanopore reads.

Feature

Added support in the sentieon wrapper to run Sentieon python scripts.

Bug-fix

Added additional error checks and error reporting.

Release 202010.02

Type

Description

Feature

Maintenance update of the TNseq algorithm.

Feature

Added support in util for amplicon specific primer clipping.

Feature

Added support to access s3 objects from a region different than the one hosting the bucket.

Feature

Improved speed of TNhaplotyper2 for extreme depth cases.

Feature

Introduced β-version of STAR aligner.

Bug-fix

Solved an issue when using CRAM files that could incorrectly report reads as missing the RG under very rare circumstances.

Bug-fix

Solved issue in CoverageMetrics that could cause a small run-to-run results difference.

Bug-fix

Solved issue when using CRAM that could drop certain malformed reads from output.

Bug-fix

Solved issue in TNhaplotyper2 that could cause an error when using the –bam_out option.

Bug-fix

Solved issue in TNfilter that would cause an error when encountering unrecognized reference bases.

Bug-fix

Solved issue in util sort –umi_post_process that would cause an incorrect BI/BD tag.

Bug-fix

Solved issue when reading BAM files with convoluted PGs that would cause a crash.

Bug-fix

Solved issue in TNhaplotyper, TNhaplotyper2 and TNscope that could cause a crash when using options –given and –bam_output.

Bug-fix

Solve issue in TNhaplotyper2 that could produce incorrect PS values.

Bug-fix

Solved issue in some metrics algorithms that was producing trailing tabs causing an empty column output.

Bug-fix

Added additional error checks and error reporting.

Release 202010.01

Type

Description

Feature

Added support in TNhaplotyper2 for genotyping given alleles.

Feature

Improved TNscope® method for handling read trimming.

Feature

Added support in TNscope® for amplicon specific primer removal.

Bug-fix

Added additional error checks and error reporting.

Bug-fix

Fixed issue in TNscope® that could report incorrect AD numbers at tri-allelic sites.

Bug-fix

Solved issue in ContaminationModel that could calculate incorrect estimates when using very sparse pileups.

Bug-fix

Solved issue in Haplotyper that could cause a crash for inputs with high depth close to the start of a non-canonical chromosome.

Bug-fix

Solved issue in umi consensus that could cause the sequence and BI/BD to be inconsistent when using duplex UMI.

Bug-fix

Solved issue in ContaminationModel that could cause a crash under rare circumstances.

Bug-fix

Solved issue that could cause a crash when using the Sentieon® libraries with bcl2fastq.

Release 202010

Type

Description

Feature

Reduced memory usage when outputting CRAM files.

Feature

Maintenance update of the TNseq algorithm.

Feature

Added DNBSEQ platform to support BGI sequencers.

Feature

Improve speed of umi consensus when not outputting BI/BD tags.

Feature

Added support of BGZF compressed interval list files as well as VCF and VCF.gz files.

Feature

Modified the type of the AD, QSS and RPA FORMAT field in the VCF.

Feature

Override unlimited stack size limit in Linux to prevent Linux bug with thread local storage allocation.

Feature

Using an empty interval bed file will result in no processing done, as if the interval had 0 length.

Bug-fix

Added additional error checks and error reporting.

Bug-fix

Solved issue that would cause a crash when using BAM files containing reads without a sequence.

Bug-fix

Added option in util sort to handle supplementary reads after processing with the umi tools.

Bug-fix

Solved issue in umi consensus that could cause results to depend on the number of threads.

Bug-fix

Solved issue in Haplotyper that could cause an out of bound memory access error in very rare circumstances

Bug-fix

Solved issue in util sort that could cause it to hang for single threaded jobs under very rare circumstances.

Bug-fix

Solved issue in umi consensus that could cause a segmentation fault.

Bug-fix

Solved issue in umi consensus that produced a non informative group 0 histogram when using –min_reads 1.

Bug-fix

Error out when creating CRAM file containing reads beyond the reference end.

Bug-fix

Solved issue in plot that would not respect the SENTIEON_TMPDIR environmental variable.

Release 201911.01

Type

Description

Feature

Reduced number of temporary files in util sort.

Feature

Improved UMI consensus calculation for INDELs.

Feature

Reduced memory usage in UMI tool.

Feature

Added support in umi extract to read FASTQ files containing UMI tags already extracted.

Feature

Added support in Dedup metrics to report QCFAIL reads if present.

Feature

Made the rsID field population from dbSNP more robust.

Bug-fix

Solved issue that would cause a crash when using CRAM files and unmapped reads of zero length.

Bug-fix

Solved issue in SequenceArtifactMetricsAlgo that could cause a negative result.

Bug-fix

Solved issue in BWA that could cause an error when using a value larger than 520g for bwt_max_mem option.

Bug-fix

Solved issue in the vcflib python library that could cause an error processing VCFs from SVSolver

Bug-fix

Added additional error checks and error reporting.

Bug-fix

Solved issue in umi extract that could cause a crash.

Bug-fix

Solved issue that could slow down merging of large output files.

Bug-fix

Solved issue that could generate an incorrect CRAM index file when a slice contained multi contigs.

Bug-fix

Solved issue in licsrvr for Mac that could prevent it from stopping when running the –stop command.

Bug-fix

Solved issue that could cause a crash when using CRAM files and reads longer than 128KBases.

Bug-fix

Solved issue in util sort that could cause a crash with very large SAM records.

Bug-fix

Solved issue in Haplotyper that could cause an out of bound memory access error in very rare circumstances

Bug-fix

Solved issue in DNAscope that could produce no GT when using –given.

Bug-fix

Solved issue in CollectVCMetrics that could cause incorrect results for INDELs straddling beyond the input interval.

Release 201911

Type

Description

Feature

Introduced β-version of tools for processing reads containing UMI sequences.

Feature

Introduced β-version of software for ARM based CPUs.

Feature

Added support in ReadWriter to filter reads based on the mapping quality.

Feature

Maintenance update of BWA

Feature

Improved speed of util sort on high CPU count servers.

Feature

Added support in ReadWriter to filter reads based on their flags.

Feature

Added support to GVCFtyper to output very small AF numbers in scientific notation.

Feature

Modified the type of the AD FORMAT field in the VCF.

Feature

Added support in TNscope® to output ID and MATEID in its BND output.

Bug-fix

Solved issue in VarCal that could cause a numeric overflow

Bug-fix

Solved issue in Haplotyper that could cause a segmentation fault under very rare circumstances.

Bug-fix

Solved issue in TNscope® calling SVs that would output an invalid AD value for the normal sample, if present.

Bug-fix

Solved issue in DNAscope that would prevent generating a GVCF when using sharded mode.

Bug-fix

Solved issue in VarCal that would cause an issue when using a VCF containing an INF value annotation.

Bug-fix

Solved issue in Haplotyper and DNAscope that would not trim common bases in REF and ALT in a variant with a spanning delete.

Bug-fix

Solved issue in TNscope® SV calling that could shift the position by a few bases under rare circumstances.

Bug-fix

Solved issue in GVCFtyper that would create a SOR=nan for large cohorts

Bug-fix

Solved issue in the DNAscope Smith-Waterman that could cause a results difference in very rare circumstances.

Bug-fix

Solved issue that could cause an error when inputing sharded VCF files indexed by other tools.

Bug-fix

Added additional error checks and error reporting.

Release 201808.08

Type

Description

Bug-fix

Solved issue in Haplotyper that could create an incorrect tbi index file.

Bug-fix

Solved issue in DNAscope and Haplotyper that could cause an assertion when using the –bam_output option.

Bug-fix

Solved issue in LocusCollector that could cause an assertion when creating a compressed score file.

Release 201808.07

Type

Description

Feature

Improved speed of QualCal on high CPU count servers.

Feature

Improved speed of Dedup on high CPU count servers.

Feature

Improved speed of GVCFtyper merge for large cohorts.

Bug-fix

Solved issue preventing reading CRAM files with slices straddling across multiple contigs; the Sentieon® tools do not generate such CRAM files.

Bug-fix

Added additional error checks and error reporting.

Bug-fix

Solved issue that would cause an error when using BAM files containing incomplete PG records.

Bug-fix

Solved issue in GVCFtyper that would cause an error when using phased GT annotation.

Release 201808.06

Type

Description

Bug-fix

Solved issue in GVCFtyper that could cause an error when using multinomial genotyping and more than 1000 samples.

Release 201808.05

Type

Description

Feature

Improved speed of BWA alignment.

Feature

Changed default CRAM output version to 3.0

Feature

Reduced memory usage when outputting CRAM files.

Feature

Added error checking in tnhapfilter.

Feature

Improved accuracy of DNAscope model.

Feature

Removed Realigner stages from the example files

Feature

Added option in Haplotyer and GVCFtyper to use additional genotyping models.

Bug-fix

Solved issue in TNhaplotyer2 that could cause a run to run variation in the annotation calculation in 1 out of 100 runs.

Bug-fix

Solved issue in BWA that could cause an error when using an extremely large bwt_max_mem option.

Bug-fix

Solved issue that could cause an error when reading a CRAM file generated by cramtools.

Bug-fix

Improved error reporting.

Release 201808.03

Type

Description

Bug-fix

Solved issue in TNscope® that set the wrong default settings.

Release 201808.02

Type

Description

Feature

Improved speed of TNscope®.

Feature

Added option –trim_soft_clip to TNscope®, TNhaplotyper and TNhaplotyper2.

Feature

Added capability for output BAM from –bam_output option to keep the input BAM RG information.

Feature

Added option –disable_detector to TNscope® to control the type of variants called.

Feature

Added support in TNscope® SV calling to more accurately represent large INS.

Feature

Added mode to util fqidx to extract a fraction of the reads.

Feature

Added support in GVCFtyper merge mode to allow input files hosted in an object storage location.

Feature

Added support for using multiple –interval options.

Bug-fix

Solved issue in TNscope® that could call a false positive in a site that has a germline call and is neighboring another SNV.

Bug-fix

Improved error reporting.

Bug-fix

Solved issue in sentieon script that could prevent using a demo license on a shell that is not BASH.

Bug-fix

Solved issue that would prevent BED files containing an interval with identical start and end.

Bug-fix

Solved issue in DNAModelApply that would cause an error when the input VCF file is empty.

Bug-fix

Solved issue in plot that could cause it to run longer than necessary.

Bug-fix

Solved issue in DNAModelApply that would cause an error when over-scheduling.

Bug-fix

Solved issue in util sort that could cause an assertion error when over-scheduling.

Bug-fix

Solved issue in plot that would generate BQSR PDF plots without AA and AAA context covariate.

Release 201808.01

Type

Description

Feature

Improved performance of DNAscope and Machine learning model

Feature

Improved speed of Insert Size plotting when the sample has very large insert sizes

Bug-fix

Solved issue in GVCFtyper that could create a non conforming VCF when doing joint calling of DNAscope results.

Bug-fix

Solved issue in DNAModelApply that would cause an error when the input file does not contain a ModelID.

Bug-fix

Solved issue in Haplotyper when using the –given option that would generate a VCF without the LowQual filter definition in the header.

Bug-fix

Solved issue in tnhapfilter tool to include tumor sample in the header of the VCF

Release 201808

Type

Description

Feature

Added support in ReadWriter for customized flag read filters.

Feature

Added support to modify the read group information of an input BAM file.

Feature

Added support in TNscope® and TNhaplotyper to output a BAM including local reassembly of the reads.

Feature

Added support in TNModelApply to include command line to the VCF output.

Feature

Added support to QualCalFilter to keep the base quality scores before recalibration.

Feature

Introduced TNhaplotyper2 algorithm

Feature

Added support for outputting CRAM v 3.0 files.

Feature

Added support in Haplotyper, DNAscope and GVCFtyper to input the expected heterozygosity value used to compute prior likelihoods.

Feature

Updated interface of plot to better match other tools.

Feature

Added support for machine learning model for DNAscope

Feature

Modified the help for driver options to make it more user friendly.

Feature

Improved speed in Dedup.

Feature

Added support in Haplotyper, Genotyper and DNAscope to include @PG line in the output header of the --bam_output argument.

Feature

Updated the @PG information when processing in distribution mode to make it more informative.

Bug-fix

Solved issue in GVCFtyper on DNAscope GVCFs that may report incorrect phasing on a multi-allelic variant

Bug-fix

Solved issue in util sort that would cause an error in older CPUs.

Bug-fix

Added additional error checks and error reporting.

Bug-fix

Solved issue in LocusCollector that would cause a crash when running 2 commands in parallel outputting to the same file.

Bug-fix

Solved issue in Haplotyper that could create a GVCF with REF allele incorrectly set to N under very rare conditions.

Bug-fix

Solved issue in TNscope® that may use uninitialized values

Bug-fix

Solved issue in AlignmentStat that would report an incorrect command line in the header of the output file.

Bug-fix

Solved issue that could slow down the startup when the LIBDIR contains many files and is stored in a NFS.

Release 201711.05

Type

Description

Bug-fix

Solved issue in in Haplotyper that could create a GVCF file that does not cover the entire region under rare circumstances.

Release 201711.04

Type

Description

Feature

Added support to all BAM writing tools to preserve existing PG tags in the header.

Bug-fix

Solved issue in TNscope® that could cause an error with references containing small contigs.

Bug-fix

Solved issue in SVSolver that could cause a segmentation fault.

Bug-fix

Solved issue in Haplotyper when using the —bam_output option that could generate a debug BAM file incompatible with other tools.

Bug-fix

Solved issue in ApplyVarCal that would generate a non-compliant list of FILTERs if the input file already had existing filters.

Release 201711.03

Type

Description

Feature

Reduced memory usage in GVCFtyper.

Feature

Improved the speed of BWA alignment.

Feature

Added command line to output of metrics tools.

Feature

Reduced memory usage in util sort.

Feature

Reduced TNscope® SV calling runtime for very large samples.

Bug-fix

Solved issue in GVCFtyper merge when using --split_by_sample that would cause an error in merging files with a large number of samples.

Bug-fix

Solved issue in WgsMetricsAlgo that would cause an error under very rare circumstances.

Bug-fix

Reduced memory usage in WgsMetricsAlgo and SequenceArtifactMetricsAlgo tools.

Bug-fix

Solved issue in SequenceArtifactMetricsAlgo that would produce an error when using reference FASTA files with non-ACGT bases.

Bug-fix

Solved issue in WgsMetricsAlgo that would cause an error when the --coverage_cap argument is not within the valid rage.

Bug-fix

Solved issue in SequenceArtifactMetricsAlgo that would cause an error when the --context_size argument is not within the valid rage.

Release 201711.02

Type

Description

Feature

Added support for BWA shm mode.

Feature

Added QC metrics tools: BaseDistributionByCycle, QualityYield, WgsMetricsAlgo, SequenceArtifactMetricsAlgo.

Feature

Improved speed in TNscope® when calling SVs.

Feature

Added support in TNscope® to show progress report during the SV calling.

Feature

Reduced memory usage in TNscope® while calling SVs.

Feature

Introduced β-version of Windows based tools.

Feature

Improved speed for the Windows version.

Feature

Added additional error checks and error reporting.

Feature

Modified the default behavior in DNAscope when only calling short variants to filter out chimeric reads during genotyping.

Feature

Reduced memory usage in GVCFtyper.

Bug-fix

Solved issue in Haplotyper that would cause an error if the input BAM file contained reads where the cigar is composed solely of soft and hard clips.

Bug-fix

Solved issue in TNscope® that could cause a segmentation fault when using an incomplete BAM file.

Bug-fix

Solved issue in TNscope® that would cause a segmentation fault under rare circumstances.

Bug-fix

Solved issue in Haplotyper and DNAscope that could cause an error when using the bam_output option.

Bug-fix

Solved issue in Realign that would not do the proper read pairing when dealing with secondary alignments.

Bug-fix

Maintenance update on the SVsolver algorithm.

Bug-fix

Solved issue in licsrvrv for Windows that would prevent it from working with HTTP proxy servers with authentication.

Bug-fix

Solved issue in GVCFtyper that would produce VCF records with non-conformant MQ0 when the input GVCFs include MQ0 annotation.

Release 201711.01

Type

Description

Feature

Improved QualCal speed for very small jobs.

Feature

Added support in licsrvr to report the version.

Feature

Added support in licsrvr to report an update in the license.

Bug-fix

Solved issue in licsrvr that would prevent from working HTTP proxy servers that return auth schemes in multiple header lines.

Bug-fix

Solved issue in Haplotyper, DNAscope, TNhaplotyper and TNscope® that could cause an “illegal instruction” error in AWS.

Bug-fix

Solved issue in TNscope® that would produce and “Error in function boost” under rare conditions.

Bug-fix

Solved issue in util that would prevent running vcfconvert on a compressed vcf.gz file.

Bug-fix

Solved issue in Haplotyper and DNascope that could cause an error when using the --bam_output option.

Bug-fix

Reduced memory usage in Realigner.

Bug-fix

Solved issue in TNhaplotyper and TNscope® that could incorrectly filter a variant as present in the Panel of Normals when the variant is covered by a DEL present in the PoN.

Bug-fix

Changed emit_conf value in the sample scripts to use the default value.

Bug-fix

Solved issue in TNhaplotyper and TNscope® that could produce an assertion error when using a fractured bed file with small intervals close to each other.

Bug-fix

Solved issue in TNscope® that would prevent the job from finishing when prune_factor is set to 0.

Bug-fix

Solved issue in BWA that prevented it from working on certain older AMD cpus.

Release 201711

Type

Description

Feature

Added support in Haplotyper to output a BAM including the local reassembly of the reads.

Feature

Introduced β-version of new functionality for applying a Machine Learning model to help with variant filtration in TNscope®.

Feature

Introduced β-version of new functionality for Python based recipe creation to drive the Sentieon® tools.

Feature

Introduced β-version of new product DNAscope for germline variant calling and germline structural variant calling.

Feature

Added support for printing the command line to stderr log, usually as the first line, before the license check.

Feature

Added support in QualCal to calculate recalibration tables based on PU if present.

Feature

Added support in ApplyVarCal to use both SNP and INDEL models in a single command line.

Feature

Added additional error checks and error reporting.

Bug-fix

Solved issue in TNscope® SV that would cause an error if the input BAM file contained realigned reads with no matching bases.

Bug-fix

Solved issue that would cause a crash when using a BAM file containing reads with invalid mate tid.

Bug-fix

Solved issue in GVCFtyper that could cause a job to incorrectly think there are not enough licenses available when the communication to the license server is slow.

Bug-fix

Solved issue in TNscope® that failed to detect long INDELs under rare circumstances.

Bug-fix

Solved issue in ApplyVarCal that caused the output VCF file to miss the Sentieon® CommandLine in the header.

Bug-fix

Solved issue in TNscope® that prevented modifying the max_normalAlt_active option, which could cause loss of variants in areas of extreme depth.

Bug-fix

Solved issue in GCBias that would report results for a RG that did not contain any reads.

Bug-fix

Solved issue in util that would cause a crash when the BAM contained reads whose tid is out of bound.

Bug-fix

Solved issue in util stream that would not include the full path of util binary in the PG line of the BAM header.

Bug-fix

Solved issue in AlignmentStat that would produce an inaccurate PCT_ADAPTER value when the adapter_seq is not null.

Bug-fix

Solved issue in ApplyVarCal that would produce incorrect results when using sensitivity 0.

Bug-fix

Solved issue in the help of TNhaplotyper that would misrepresent the default pcr_indel_model.

Bug-fix

Solved issue in BWA that prevented it from working on certain older AMD cpus.

Bug-fix

Solved issue in InsertSizeMetrics that would generate a header using space instead of tab.

Release 201704.03

Type

Description

Feature

Added support for using a HTTP proxy with authentication.

Bug-fix

Solved issue that would prevent recalibration tables from older releases from being applied when the BAM file RGs have a defined PU.

Bug-fix

Solved issue in Realigner that could cause an error under extremely rare circumstances when reads in the input file have inconsistent information.

Bug-fix

Solved issue in TNscope® that could incorrectly error out when the tumor_contamination_frac parameter was set to 0.

Bug-fix

Solved issue that was preventing using BAM files with Contigs larger than 300M.

Release 201704.02

Type

Description

Feature

Added support in QualCal to allow input of --cycle_val_max parameter.

Bug-fix

Solved issue in Realigner when input BAM file has wrong MC tag type.

Bug-fix

Solved issue in TNhaplotyper in --detect_pon that would produce a non-compliant VCF.

Bug-fix

Solved issue in TNscope® in --given mode that would not report records on areas of 0 depth coverage.

Bug-fix

Solved issue in CoverageMetrics that would report the wrong cumulative_coverage_counts, coverage.statistics when input BAM has multipe different readgroups.

Bug-fix

Solved issue in InsertSizeMetricAlgo, GCBias and CoverageMetrics that could report the wrong results for extremely deep (600x) samples.

Bug-fix

Solved issue in QualCal where cycle_val_max parameter was not opened to user.

Release 201704.01

Type

Description

Feature

Added additional checks on the input BAM files.

Bug-fix

Solved issue in Dedup that would cause the algorithm to hang when the BAM file has more than 4 billion reads (200x WGS with 150 BP reads).

Bug-fix

Solved issue in QualCal that was slowing down the calculation.

Bug-fix

Solved issue in TNscope® that could report the wrong reference allele for structural variants.

Bug-fix

Solved issue that could cause a job to hang under extremely rare circumstances.

Bug-fix

Solved issue that could cause extra tags in the BAM header to disappear.

Release 201704

Type

Description

Feature

Maintenance update of algorithms.

Feature

Added support for defining a temporary directory, instead of using PWD.

Feature

Added support for type 2 VCF index files.

Feature

Added additional error checks and error reporting.

Feature

Added support for SAC annotation and Allele Specific annotations.

Feature

Added support for additional read filtering: MapQualFilter and OverclippingFilter.

Feature

Added support for CollectVCMetrics.

Feature

Added support for Deduplication equivalent to using BAM files sorted by read name.

Bug-fix

Solved issue in license control that would prevent run when the SENTIEON_AUTH_DATA is of a specific length.

Bug-fix

Solved issue that would not properly parse bed files containing both space and tab delimited fields.

Bug-fix

Solved issue in TNscope® that would report the wrong REF allele for structural variants.

Bug-fix

Solved issue in CoverageMetrics that would produce the wrong summary mean coverage when not using a bed file.

Release 201611.03

Type

Description

Feature

Added support for more options for base quality score recalibration.

Bug-fix

Solved issue in GVCFtyper that could report an incorrect GT or PL when the input GVCFs had been processed with different bed files.

Bug-fix

Solved issue in Realign that caused reads close to the edge of the contig to be realigned beyond the contig boundary.

Bug-fix

Solved issue in Realign that caused a segmentation fault when using known sites VCF including symbolic variants.

Bug-fix

Added support for Realign to update NM and MD tags in the realigned reads.

Release 201611.02

Type

Description

Feature

Added support for calling given known variants to Genotyper, Haplotyper, and TNscope®.

Feature

Added support for outputting physical phasing information of variants in TNhaplotyper and TNscope®.

Feature

Added support for base quality correction in streaming mode in util.

Feature

Maintenance update of HsMetricAlgo.

Feature

Removed redundant nthr argument in VarCal.

Bug-fix

Solved issue in TNscope® causing excessive memory usage in the structural variant calling.

Bug-fix

Solved issue in TNscope® causing a segmentation fault when an output file was not set.

Bug-fix

Solved issue in QualCal in --plot mode that was incorrectly reporting the need for known sites.

Bug-fix

Solved incorrect description of filter low_t_alt_frac in TNscope®.

Release 201611.01

Type

Description

Feature

Removed TNscope® temporary files novo_hap.data and novo_sv.data.

Feature

Increased default license timeout from client request.

Bug-fix

Solved an issue causing jobs to hang at the end of the processing when there were issues in the network communication.

Bug-fix

Solved an issue in TNscope® causing an assertion error when pairend reads have inconsistent flags.

Bug-fix

Solved an issue in TNscope® that incorrectly considered reads marked as duplicates in the calculation.

Release 201611

Type

Description

Feature

Added --emit_mode all in GVCFtyper.

Feature

Updates to β-version of TNscope®.

Feature

Speed improvement to the alignment and sorting tools.

Feature

Added ContaminationAssessment algorithm for contamination estimation.

Feature

Added detection of truncated VCF input and corrupted cram input files.

Bug-fix

Solved an issue in VarCal that was not producing a plot file when the recalibration failed.

Bug-fix

Solved an issue in VarCal that could cause a segmentation fault when there were not enough licenses for the requested threads.

Bug-fix

Solved an issue in util sort that was causing a segmentation fault when converting an empty sam file to BAM file.

Release 201608.01

Type

Description

Bug-fix

Solved issue in TNseq in tumor-only mode that added to the output VCF an empty column for non-existent NORMAL sample.

Release 201608

Type

Description

Feature

Introduced β-version of new product TNscope® for Tumor-Normal somatic variant calling and structural variant calling.

Feature

Reduced peak memory utilization in klib for alignment.

Feature

Speed improvement in the input file loading of GVCFtyper.

Feature

Speed improvement in the Haplotyper algorithm.

Feature

Made VarCal more robust when building the VQSR gaussian models.

Bug-fix

Cleared up certain error messages to make them more user friendly.

Bug-fix

Solved issue in Genotyper that caused a segmentation fault when using var_type BOTH.

Release 201606.02

Type

Description

Feature

Reduced memory utilization in GVCFtyper to reduce requirements for analysis of large (4000+) cohorts.

Bug-fix

Solved issue in TNsnv that created VCF files non-conforming to the standard.

Release 201606.01

Type

Description

Bug-fix

Solved an issue that prevented licsrvr from serving licenses when the user group list is longer than 1000 characters.

Release 201606

Type

Description

Feature

Maintenance update of TNhaplotyper algorithm (still in β).

Feature

Added support for RNAseq variant calling.

Feature

Added online help.

Feature

Added support for interval padding.

Bug-fix

Solved issue that produced no output in TNhaplotyper when using a PoN or no normal sample data.

Bug-fix

Solved issue preventing BED file with a header from being used.

Release 201603.03

Type

Description

Feature

Added method for inputting long list of VCF files to GVCFtyper.

Feature

Added command line to VCF header.

Feature

Added support for additional annotations on all variant callers.

Bug-fix

Solved issue producing an assertion error when too few variants are called.

Bug-fix

Solved issue reporting the wrong assembly in the VCF header when the FASTA file cannot be interpreted correctly.

Release 201603.02

Type

Description

Bug-fix

Solved issue in TNhaplotyper that incorrectly filtered INDELs.

Bug-fix

Solved issue in TNsnv and TNhaplotyper that made the dbsnp a required argument.

Bug-fix

Solved issue that creates non-conforming VCF files when calling variants in locations where the REF base is M.

Release 201603.01

Type

Description

Feature

Speed improvement in the VQSR algorithm.

Bug-fix

Solved issue that caused VQSR to apply to the wrong type of variants when the variants had a prior LOD annotation.

Bug-fix

Solved issue that slowed down dedup optical duplicate calculation when the number of duplicates at one locus is too large.

Release 201603

Type

Description

Feature

Maintenance update of algorithms.

Feature

Added TNsnv and TNhaplotyper (in β) algorithms for Tumor-Normal and Tumor only somatic variant calling.

Feature

Added support for CRAM files.

Feature

Added support for Haploid and Polyploid samples.

Feature

Added support for setting custom GQ bands for GVCF output.

Bug-fix

Solved issue that dropped reads when the reads extended beyond the contig boundary.

Release 201601.01

Type

Description

Bug-fix

Solved issue in GVCFtyper that produced the wrong variant quality on sites with AAF 0.5 when using more than 50 samples.

Release 201601

Type

Description

Feature

Added support for using interval files only on the realign target creation portion of Realigner.

Bug-fix

Solved issue preventing license server from running in systems with an Infiniband interface.

Bug-fix

Solved issue when merging BAM files that marks reads unmapped when their mate is unmapped.

Bug-fix

Solved issue in Haplotyper in GVCF mode when intervals are used that causes missed variants when the first interval of a contig contains no variants

Bug-fix

Solved issue in GVCFtyper to remove stray/empty SB annotations from the output VCF

Bug-fix

Solved issue causing the corruption of the output VCF under rare conditions involving large number of samples.

Bug-fix

Solved issue that prevented using BAM index files without the optional metadata pseudo bin.

Release 201511.01

Type

Description

Bug-fix

Solved issue in QualCal algorithm that slowed down execution when using BAM files with large number of Readgroups.

Bug-fix

Solved issue in ReadWriter algorithm that produced an incorrect BAM file when using a recalibration table and an input BAM that had PGZ auxiliary data.

Bug-fix

Solved issue in VQSR algorithm that caused the execution to hang when using the results from joint calling of more than 20 samples.

Release 201511

Type

Description

Feature

Maintenance update of algorithms.

Feature

Added pcr_indel_model flag to Haplotyper tool.

Feature

Added phasing information to the output of Haplotyper.

Feature

Added depth metrics tool.

Feature

Added support for compressed VCF/GVCF input and output.

Feature

Added support for Picard style interval files.

Feature

Added wrapper script to remove requirement of LD_LIBRARY_PATH environmental library.

Bug-fix

Added FILTER definition to the VQSR output file header.

Bug-fix

Solved issue that would cause an Out of Memory error in BQSR when using interval files.

Bug-fix

Solved issue that would cause a crash in IndelRealigner when the BAM file has reads with supplementary alignment.

Release 201509

Type

Description

Feature

Reduced resource requirements, including reducing the required maximum number of open files in the system.

Feature

Various improvements in error reporting.

Bug-fix

Solved issue that prevented using multiple BAM files as input to algorithms that produced another BAM file.

Bug-fix

Solved issue that prevented running BQSR when using Readgroups containing spaces.

Bug-fix

Solved issue in Haplotyper that could cause an incorrect variant quality score calculation in low coverage regions. The change could be up to 2% in the quality score, for 1 in 100000 variants.

Release 201508.01

Type

Description

Bug-fix

Solved issue in Realign algorithm that may cause an error when using known sites

Release 201508

Type

Description

Feature

Enhanced error reporting and error handling when dealing with inconsistent input data

Feature

Packaged BWA 0.7.12, and removed non-official options for BWA interface. The results of the packaged BWA are identical to the official BWA

Feature

Grouped the temporary files for VQSR plotting into a single file

Feature

New license server for large clusters

Bug-fix

Solved error in Haplotype Caller when using GVCF emit mode for joint calling

Bug-fix

Solved error in joint calling GVCFtyper that prevented using more than 20 samples

Release 201506

Type

Description

Feature

Added support for Hybrid Selection Analysis metrics

Feature

Unified Genotyper default behavior is to call only SNP variants, to be consistent with GATK 3.3 default behavior

α-Feature

Added initial support for joint variant calling of multiple samples that have ben previously processed individually

Bug-fix

Metrics properly reports unmapped reads when both mates in the pair are unmapped

Release 201505.02

Type

Description

Feature

Speed improvement in Alignment stage

Feature

Speed improvement in Dedup stage

Feature

Added support for temporary BAM files

Release 201505.01

Type

Description

Bug-fix

Issue running VQSR in Mac platform

Release 201505

Type

Description

Feature

Speed improvement via AVX optimization

Feature

Standarized option naming convention

Feature

tmp folder moved to the same location as the job

Feature

Added validation checks to input files

Bug-fix

Solved run to run differences in BQSR when reads have quality scores of 0.

Bug-fix

BQSR applied twice when running variant calling using a recaled BAM file.

Usage changes from previous release

Release 202503.02

This released introduced the following changes in interface and usage:

  • Added new pgutil tool.

  • -se_tag option is added in the InsertSizeMetricAlgo to includes single-end consensus reads in the insert size metrics calculation.

Release 202010.04

There are no changes in interface for this release.

Release 202010.03

This released introduced the following changes in interface and usage:

  • Added new minimap2 tool.

  • Added new VariantPhaser algorithm for the PacBio® pipeline.

Release 202010.02

This released introduced the following changes in interface and usage:

  • Added new STAR tool.

  • Added support in util sort for --trim_primer option to mark primers as soft or hard clips for amplicon samples.

Release 202010.01

This released introduced the following changes in interface and usage:

  • Added support in TNhaplotyper2 for --given option.

  • Added support in TNscope® for --trim_primer option to trim primers for amplicon samples.

Release 202010

This released introduced the following changes in interface and usage:

  • Added 3 new algorithms (ContaminationModel, OrientationBias, and TNfilter) and updated TNhaplotyper2 for TNseq pipelines; in addition, deprecated the tnhapfilter tool, replaced by TNfilter.

  • Added new option --umi_post_process to util sort for umi pipelines.

  • Modified the way the tools deal with empty BED interval files: using an empty interval bed file will result in no processing done, as if the interval had 0 length.

  • The tools now support using VCF files as interval files.

  • Removed support for the –interval option in the Dedup algo to avoid unintentionally dropping reads from the output file.

Release 201911.01

This released introduced the following changes in interface and usage:

  • Added suppport in umi extract for 3 input FASTQ files.

Release 201911

This released introduced the following changes in interface and usage:

  • Added umi extract and umi consensus tools for processing reads containing UMI sequences.

  • Added --output_flag_filter to ReadWriter to filter reads based on their flags. This option replaces the --read_flag_mask RedWriter option, which has been deprecated.

Release 201808.08

There are no changes in interface for this release.

Release 201808.07

There are no changes in interface for this release.

Release 201808.06

There are no changes in interface for this release.

Release 201808.05

This released introduced the following changes in interface and usage:

  • Added --genotype_model option in Genotyper, Haplotyer and GVCFtyper algorithm to support new multinomial genotyping model.

Release 201808.03

There are no changes in interface for this release.

Release 201808.02

This released introduced the following changes in interface and usage:

  • Added TNscope® option –disable_detector to control the type of variants called.

  • Added support for using multiple –interval options.

Release 201808.01

This released introduced the following changes in interface and usage:

  • The binaries licsrvr and licclnt require using the bin/sentieon wrapper to be expecuted.

Release 201808

This released introduced the following changes in interface and usage:

  • Added --bam_output option to TNscope® and TNhaplotyper to output a BAM file including local reassembly of the reads.

  • Added support for running BWA through the sentieon command wrapper.

  • Modified plot interface to be consistent with other tools.

  • Added support for CRAM v3 files.

  • Added options --snp_heterozygosity and --indel_heterozygosity to Haplotyper and GVCFtyper to input the expected heterozygosity value used to compute prior likelihoods.

  • Added options --keep_oq and --use_oq to QualCalFilter to keep and use the original qualities when performing BQSR.

  • Added option --read_flag_mask to ReadWriter to perform customized read filtering.

  • Added option --replace_rg to driver to modify the RG information of an input BAM file.

  • Modified the flow for germline variant calling with DNAscope and added DNAModelApply algorithm.

Release 201711.05

There are no changes in interface for this release.

Release 201711.04

There are no changes in interface for this release.

Release 201711.03

This released introduced the following changes in interface and usage:

  • Introduced multi threaded capability to BWA shm, so that BWA shm accepts the -t NUMBER_THREADS option.

  • Introduced new environmental variable bwt_max_mem to limit the memory usage of BWA at the expense of speed performance.

Release 201711.02

This released introduced the following changes in interface and usage:

  • Introduced new QC metrics algorithms: BaseDistributionByCycle, QualityYield, WgsMetricsAlgo, SequenceArtifactMetricsAlgo.

  • Modified the default for option filter_chimeric_reads in DNAscope when var_type is NOT bnd.

Release 201711.01

This released introduced the following changes in interface and usage:

  • Added options --version` and ``--dump to licsrvr binary.

Release 201711

This released introduced the following changes in interface and usage:

  • Added new DNAscope algorithm for germline variant calling and structural variant calling.

  • Added new TNModelApply algorithm for applying a Machine Learning model to help with variant filtration in TNscope®.

  • Added new --bam_output option to Haplotyper to output a BAM file including local reassembly of the reads.

  • Added new option --vqsr_model to ApplyVarCal to allow application of both SNP and INDEL models in a single command line.

Release 201704.03

There are no changes in interface for this release.

Release 201704.02

This released introduced the following changes in interface and usage:

  • Added --cycle_val_max parameter in QualCal algorithm.

  • Added --cram_write_options in Dedup, Realigner, ReadWriter, and RNASplitReadsAtJunction algorithms when output format is CRAM.

  • Removed --min_iter in VarCal algorithm.

Release 201704.01

There are no changes in interface for this release.

Release 201704

This released introduced the following changes in interface and usage:

  • Added new driver option --temp_dir option to override where the temporary files will be stored.

  • Added extra annotations for the --annotation option: SAC, AS_BaseQRankSum, AS_FS, AS_InbreedingCoeff, AS_MQRankSum, AS_QD, AS_MQ, AS_ReadPosRankSum, AS_SOR

  • Added new read filter driver options --read_filter MapQualFilter to filter the input BAM reads by mapping Quality and --read_filter OverclippingFilter to filter the input BAM reads according to their soft clipping characteristics.

  • Added CollectVCMetrics algorithm to calculate metrics on the VCF output from variant calling.

  • Added new Dedup options --output_dup_read_name and --dup_read_name to perform dedup to mark both primary and non-primary reads.

  • Added new options for TNhaplotyper

  • Added a new ContaminationAssessment option --population to specify the population to represent the baseline allele fraction.

Release 201611.03

This released introduced the following changes in interface and usage:

  • Added new driver option --read_filter QualCalFilter to perform base quality score recalibration with additional options.

Release 201611.02

This released introduced the following changes in interface and usage:

  • Introduced --given option in Genotyper, Haplotyper, and TNscope®, to perform calling at given variant sites.

  • Introduced stream mode in util to perform base quality correction in streaming mode.

  • Removed --nthr argument from VarCal.

  • Added extra options to HsMetricAlgo.

Release 201611.01

There are no changes in interface for this release.

Release 201611

This released introduced the following changes in interface and usage:

  • Introduced ContaminationAssessment algorithm to estimate the contamination in the tumor sample based on the normal variants called.

  • Added --emit_mode all option in GVCFtyper.

Release 201608.01

There are no changes in interface for this release.

Release 201608

This released introduced the following changes in interface and usage:

  • Introduced TNscope® algorithm as part of the new TNscope® product for Tumor-Normal somatic variant calling and structural variant calling.

Release 201606.02

There are no changes in interface for this release.

Release 201606.01

There are no changes in interface for this release.

Release 201606

This released introduced the following changes in interface and usage:

  • Added RNA variant calling tool --algo SplitReadsAtJunction and Haplotyper option --trim_soft_clip to process RNA data aligned using STAR.

  • Added --help driver option to driver and algorithms to show online help.

  • Added --interval_padding driver option to pad the input intervals.

Release 201603.03

This released introduced the following changes in interface and usage:

  • Added --annotation option to Haplotyper and Genotyper to output additional annotations to the result VCF.

  • Added new method of inputting GVCF files to GVCFtyper.

Release 201603.02

There are no changes in interface for this release.

Release 201603.01

There are no changes in interface for this release.

Release 201603

This released introduced the following changes in interface and usage:

  • Added TNsnv and TNhaplotyper algorithm for Tumor-Normal and Tumor only somatic variant calling.

  • Haplotyper and Genotyper have a new optional argument --ploidy to indicate the ploidicity of the sample being processed.

  • All locations where you can input and output BAM files now accept CRAM files.

Release 201601.01

There are no changes in interface for this release.

Release 201601

This released introduced the following changes in interface and usage:

  • Realigner has a new optional argument --interval_list to use interval file on the target interval portion of the algorithm, to be in line with Broad’s Best Practice recommendations. Using option --interval in the driver call for realigner would apply the interval to both target creation and realignment, dropping reads in the output BAM file.

Release 201511.01

There are no changes in interface for this release.

Release 201511

This released introduced the following changes in interface and usage:

  • Haplotyper has a new optional argument --pcr_indel_model to determine the indel model used to weed out false positive indels.

  • The single interval definition for the --interval driver option is now first-base-1 based as opposed to first-base-0 based. The --interval driver option supports Picard style interval lists.

  • The driver and util binaries are now accessible through a wrapper script that takes care of setting the LD_LIBRARY_PATH environmental library.

  • Output VCF files can be produced compressed by using .vcf.gz or .g.vcf.gz extensions.

Release 201509

This release introduced the following changes in interface and usage:

  • It is no longer necessary to setup a large limit of open files.

  • In the Remove duplicates stage, the Dedup command now creates an output file reporting the results of the de-duplication.

  • Added option --bam_compression to all algorithms producing an output BAM file (Dedup, Realign and ReadWriter). The option controls the output BAM file compression level and can be used to achieve a faster speed at the expense of file size.

Release 201508.01

There are no changes in interface for this release.

Release 201508

This release introduced the following changes in interface and usage:

  • The BWA mapping binary no longer requires or accepts the option -f.

  • The procedure to generate the plots for base quality score recalibration (BQSR) is now composed of 3 commands instead of 2. Option --pre has been replaced by option --before, and a new option --plot is used to generate the plotting data.

  • VQSR VarCal algorithm now produces a single file containing all data required to create the VQSR report; this file is specified via the new option --plot_file.

Release 201506

There are no changes in interface for this release.

Release 201505.02

This released introduced the following changes in interface and usage:

  • In the Alignment stage, the samtools command to convert the output of BWA from SAM to BAM is no longer required, as it is now done in the util command via a new option --sam2bam.

  • In QualCal algorithm there is a new option --pre RECAL_DATA.TABLE to calculate the data required to create the report.

Release 201505.01

There are no changes in interface for this release.

Release 201505

This release introduced the following changes in interface and usage:

  • In the GCBias algorithm, the option -s has been replaced by --summary.

  • In the LocusCollector algorithm, the option -f has been replaced by --fun.

  • In the Remove duplicates stage, the option -s has been replaced by --score_info.

  • In the Remove duplicates stage, the option -r has been replaced by --rmdup.

  • In the BQSR stage, it is no longer necessary to run the varplot command to calculate the data required to create the BQSR report; this call has been merged with the call to apply the recalibration. New option --csv is now used.