Improvements
--error-rate-pre-umi ERROR_RATE_PRE_UMI
Set the Phred-scaled error rate for an error prior to the UMIs being integrated. (default: 45)
--error-rate-post-umi ERROR_RATE_POST_UMI
The Phred-scaled error rate for an error post the UMIs have been integrated. (default: 40)
--min-input-base-quality MIN_INPUT_BASE_QUALITY
Ignore bases in raw reads that have Q below this value. (default: 10)
--min-consensus-base-quality MIN_CONSENSUS_BASE_QUALITY
Mask (make ‘N’) consensus bases with quality less than this threshold. (default: 2)
The CNVkit implementation now supports the batch, autobin and coverage subcommands.
--run-partition
Divide the whole genome into multiple partition and run multiple processes at the same time, each on 1 partition.
--run-partition
Divide the whole genome into multiple partition and run multiple processes at the same time, each on 1 partition.
--no-alt-contigs
Get rid of output records for alternate contigs.
--min-map-q MIN_MAP_Q
Minimum mapping quality (default: 30)
--run-partition
Divide the whole genome into multiple partition and run multiple processes at the same time, each on 1 partition.
--no-alt-contigs
Get rid of output records for alternate contigs.
--use-GRCh37-regions
Use the pseudoautosomal regions for GRCh37 reference types. This flag should be used for GRCh37 and UCSC hg19 references. By default, GRCh38 regions are used.
--run-partition
Divide the whole genome into multiple partition and run multiple processes at the same time, each on 1 partition.
--no-alt-contigs
Get rid of output records for alternate contigs.
--anomalous-reads
Do not discard anomalous read pairs.
--output-mq
Output mapping quality.
--output-bp
Output base positions on reads.
--exclude-bed-file
Optional bgzip-compressed/tabix-indexed BED file containing the set of regions to exclude.
--min-map-q MIN_MAP_Q
Minimum mapping quality. (default: 30)
--error-rate-pre-umi ERROR_RATE_PRE_UMI
The Phred-scaled error rate for an error prior to the UMIs being integrated. (default: 45)
--error-rate-post-umi ERROR_RATE_POST_UMI
The Phred-scaled error rate for an error post the UMIs have been integrated. (default: 40)
--min-input-base-quality MIN_INPUT_BASE_QUALITY
Ignore bases in raw reads that have Q below this value. (default: 10)
--min-consensus-base-quality MIN_CONSENSUS_BASE_QUALITY
Mask (make ‘N’) consensus bases with quality less than this threshold. (default: 2)
--output-mq
Output mapping quality.
--output-bp
Output base positions on reads.
Added support for A10, A30, A40, A6000 GPUs for all tools in Clara Parabricks. Visit the Deepvariant documentation page for more details.
Improved tumor-only calling in LoFreq.
Added end-to-end support for germline on Hopper.
Improved CNNScoreVariants tool.
Added multi-TSV annotation database support.
Added consequence calling using bcftools 'csq' option.
Speedup in reading and writing VCF files.
Add mapquality, basequality and fwd/rev alleles to summary in vcfqcbybam.
Improve float comparison in vcfdiff.
Add two sample support to votebasedvcfmerger.
Update CNVKIT to v0.9.9.
bam2fq no longer requires a reference file if BAM input is used.
haplotypecaller now uses multiple CPUs to process multiple partitions.