Changes Fixes #26 and #41 by annotating VCFs with homoplasmic problematic sites from DeMaio. These are annotated in the field INFO/problematic. Also, all mutations at beginning and end of the genome are now filtered out. Changes the default VAFs to classify mutations and introduces a new classification. Low frequency are those below 2 % VAF, subclonal are above or equal 2 % and below 50 %, low quality clonal are above or equal 50 % and below 80 %; the rest are considered clonal
A list of variants, in variant call format (VCF), showing the mutations that were observed more than...
International audienceWith the rapidly developing high-throughput sequencing technologies known as n...
VCF file containing filtered mutated sites in SARS-CoV-2 genomes obtained from GISAID EpiCoV, separa...
Changes Integrate pangolin for lineage determination. Integrate VAFator to annotate mutations with ...
Changes Added a custom step phasing of clonal mutations. All clonal mutations (ie: clonal/not clona...
Changes Add support for input directly VCF (--vcf) files instead of FASTA or FASTQ files. These VCF...
Major changes Add read trimming with fastp Output QC results in JSON format Integrate 4 variant...
Changes Implement an approach to calculate the probability of an undetected somatic mutation Implem...
National audienceThe software DiscoSnp++ is designed to detect genomic variants such as Single Nucle...
VCF file containing filtered mutated sites in SARS-CoV-2 genomes obtained from GISAID Epi-CoV. The c...
Major changes Support DNA assemblies in FASTA format as input instead of raw reads. Variant calli...
Used data for evaluation in pending Recomb 2022 submission "Genetic Polyploid Phasing using Marker S...
Para_zscore data Input data, annotation of all hg19 missense variants, score for every gene having ...
This is the final cleaned and filtered VCF file used for downstream population genetic and landscape...
Bugfixes set expression_mutated_transcript to use RNA VAF by default instead of DNA VAF. (Only vers...
A list of variants, in variant call format (VCF), showing the mutations that were observed more than...
International audienceWith the rapidly developing high-throughput sequencing technologies known as n...
VCF file containing filtered mutated sites in SARS-CoV-2 genomes obtained from GISAID EpiCoV, separa...
Changes Integrate pangolin for lineage determination. Integrate VAFator to annotate mutations with ...
Changes Added a custom step phasing of clonal mutations. All clonal mutations (ie: clonal/not clona...
Changes Add support for input directly VCF (--vcf) files instead of FASTA or FASTQ files. These VCF...
Major changes Add read trimming with fastp Output QC results in JSON format Integrate 4 variant...
Changes Implement an approach to calculate the probability of an undetected somatic mutation Implem...
National audienceThe software DiscoSnp++ is designed to detect genomic variants such as Single Nucle...
VCF file containing filtered mutated sites in SARS-CoV-2 genomes obtained from GISAID Epi-CoV. The c...
Major changes Support DNA assemblies in FASTA format as input instead of raw reads. Variant calli...
Used data for evaluation in pending Recomb 2022 submission "Genetic Polyploid Phasing using Marker S...
Para_zscore data Input data, annotation of all hg19 missense variants, score for every gene having ...
This is the final cleaned and filtered VCF file used for downstream population genetic and landscape...
Bugfixes set expression_mutated_transcript to use RNA VAF by default instead of DNA VAF. (Only vers...
A list of variants, in variant call format (VCF), showing the mutations that were observed more than...
International audienceWith the rapidly developing high-throughput sequencing technologies known as n...
VCF file containing filtered mutated sites in SARS-CoV-2 genomes obtained from GISAID EpiCoV, separa...