This release includes the following changes: Fix frequency of bases when indels are also present. Now correctly removes bases that support the flanking sequence of the indel and do not double count. Many changes to how we store varmaps introduced to support indels (vcf-to-varmap). The serialization format is incompatible with previous versions, so make sure you regenerate varmaps from VCF. Adjust VCF output for compatibility with REF/ALT conventions. This makes it possible to measure performance with standard tools such as RTG vcfeval (http://realtimegenomics.com/products/rtg-tools/). Keep counts of indels separately for forward and reverse strand. vcf-to-varmap mode: improved semantic of --chromosome-prefix option allows removing (e.g., -...
Background:Sharing of data about variation and the associated phenotypes is a critical need, yet var...
polyRAD 1.2 as it appears on CRAN. See the NEWS file for a list of changes. Major improvements inc...
Over the years, researchers have revealed that all kind of DNA variations play a role in the suscept...
Various fixes and improvements have improved the genotyping indel performance F1 to 95% (model train...
Various bug fixes. Indel performance is now state of the art on NA12878 with the V37 mapper (org.ca...
Bug fixed, improved phasing, and PofO assignment for variants with 1/2 genotype. Making SNVs as defa...
Deprecations SimpleInterval and SequenceState are deprecated. They will be removed in VRS 2.0. Maj...
First archived release of GenotypePlot R package. Summary of changes from initial version described ...
Since its introduction in 2011 the variant call format (VCF) has been widely adopted for processing ...
International audienceMotivation: Genotyping by sequencing (GBS) generates datasets that are challen...
Fig. S1. Heatmap between Indels (159 recurrent deletions and 102 recurrent insertions) and 1,305 ...
<div><p>The emergence of benchtop sequencers has made clinical genetic testing using next-generation...
What's Changed refactor: Allow option to use existing gene-normalizer instance (staging) by @koriku...
SUMMARY: The variant call format (VCF) is a generic format for storing DNA polymorphism data such as...
National audienceThe software DiscoSnp++ is designed to detect genomic variants such as Single Nucle...
Background:Sharing of data about variation and the associated phenotypes is a critical need, yet var...
polyRAD 1.2 as it appears on CRAN. See the NEWS file for a list of changes. Major improvements inc...
Over the years, researchers have revealed that all kind of DNA variations play a role in the suscept...
Various fixes and improvements have improved the genotyping indel performance F1 to 95% (model train...
Various bug fixes. Indel performance is now state of the art on NA12878 with the V37 mapper (org.ca...
Bug fixed, improved phasing, and PofO assignment for variants with 1/2 genotype. Making SNVs as defa...
Deprecations SimpleInterval and SequenceState are deprecated. They will be removed in VRS 2.0. Maj...
First archived release of GenotypePlot R package. Summary of changes from initial version described ...
Since its introduction in 2011 the variant call format (VCF) has been widely adopted for processing ...
International audienceMotivation: Genotyping by sequencing (GBS) generates datasets that are challen...
Fig. S1. Heatmap between Indels (159 recurrent deletions and 102 recurrent insertions) and 1,305 ...
<div><p>The emergence of benchtop sequencers has made clinical genetic testing using next-generation...
What's Changed refactor: Allow option to use existing gene-normalizer instance (staging) by @koriku...
SUMMARY: The variant call format (VCF) is a generic format for storing DNA polymorphism data such as...
National audienceThe software DiscoSnp++ is designed to detect genomic variants such as Single Nucle...
Background:Sharing of data about variation and the associated phenotypes is a critical need, yet var...
polyRAD 1.2 as it appears on CRAN. See the NEWS file for a list of changes. Major improvements inc...
Over the years, researchers have revealed that all kind of DNA variations play a role in the suscept...