This release is focused on improving memory and storage usage. Features Allow genotype dosages to be imported from VCF to be specified in vcf_genotype_field of samplesheet (default: GT / hard calls) Makes use of durable caching when relabelling and recoding target genomes (--genotypes_cache) Improvements to use less storage space: All intermediate files are now compressed by default Add parameter to support zstd compressed input files Improved memory usage when matching variant
This version adds the sample-genome feature added by @ozemsbg . This feature enables a user to creat...
Background: Since the advent of next-generation sequencing many previously untestable hypotheses hav...
<p>Genotyping of known SNPs from ClinVar using the VCF and gVCF file formats and the number of homoz...
This is the alpha release of the pgsc_calc pipeline's major new feature: to compare samples to a ref...
pgsc_calc v1.1.0 The first public release of the pgsc_calc pipeline. This release adds compatibility...
Changelog New features ancestry_analysis: use genetic PCA loadings to compare samples to populatio...
1 Summary: Genome-wide association studies directly assay 106 single nucleotide polymorphisms (SNPs)...
Additional file 1. Example of translation from VCF into GDM format for genomic region data: This .xl...
GBC (short for GenoType Blocking Compressor) is a blocking compressor for genotype data, which aims ...
<p>Genotyping of GWAS catalog sites using the VCF and gVCF file formats and the number of homozygous...
Genotype Query Tools (GQT) is a new indexing strategy that expedites analyses of genome variation da...
v1.0.0 This release produces scores that should be biologically meaningful. Significant effort has b...
<p>Concordance of genotypes represented in VCF and gVCF files with those detected by the MI RISK Plu...
Motivation : Generation of genotype data has been growing exponentially over the last decade. With t...
This patch fixes a bug that breaks the workflow if all variants in one or more PGS scoring files mat...
This version adds the sample-genome feature added by @ozemsbg . This feature enables a user to creat...
Background: Since the advent of next-generation sequencing many previously untestable hypotheses hav...
<p>Genotyping of known SNPs from ClinVar using the VCF and gVCF file formats and the number of homoz...
This is the alpha release of the pgsc_calc pipeline's major new feature: to compare samples to a ref...
pgsc_calc v1.1.0 The first public release of the pgsc_calc pipeline. This release adds compatibility...
Changelog New features ancestry_analysis: use genetic PCA loadings to compare samples to populatio...
1 Summary: Genome-wide association studies directly assay 106 single nucleotide polymorphisms (SNPs)...
Additional file 1. Example of translation from VCF into GDM format for genomic region data: This .xl...
GBC (short for GenoType Blocking Compressor) is a blocking compressor for genotype data, which aims ...
<p>Genotyping of GWAS catalog sites using the VCF and gVCF file formats and the number of homozygous...
Genotype Query Tools (GQT) is a new indexing strategy that expedites analyses of genome variation da...
v1.0.0 This release produces scores that should be biologically meaningful. Significant effort has b...
<p>Concordance of genotypes represented in VCF and gVCF files with those detected by the MI RISK Plu...
Motivation : Generation of genotype data has been growing exponentially over the last decade. With t...
This patch fixes a bug that breaks the workflow if all variants in one or more PGS scoring files mat...
This version adds the sample-genome feature added by @ozemsbg . This feature enables a user to creat...
Background: Since the advent of next-generation sequencing many previously untestable hypotheses hav...
<p>Genotyping of known SNPs from ClinVar using the VCF and gVCF file formats and the number of homoz...