Strelka2 germline and somatic small variant caller
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Apr 20, 2026 - C++
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snvs
Here are 26 public repositories matching this topic...
Personal Cancer Genome Reporter (PCGR)
interpreter cancer clinical tumor vcf cancer-genomics reporting-engine copy-number-variation annotation-tool somatic cancer-variants annotation-framework snvs oncology-data precision-oncology variant-interpretation therapeutic-targets precision-cancer-medicine
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Sep 20, 2026 - R
Microassembly based somatic variant caller for NGS data
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Jun 23, 2022 - C
SNV calling from single cell sequencing
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Nov 11, 2024 - HTML
ClairS: a deep-learning method for long-read tumor–normal pair somatic small variant calling
bioinformatics deep-learning nanopore genomics somatic-variants haplotypes pacbio somatic-mutations illumina indels phasing snvs long-reads ont long-read-sequencing short-reads
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Sep 11, 2026 - Python
ClairS-TO - a deep-learning method for tumor-only somatic variant calling
bioinformatics deep-learning nanopore genomics somatic-variants variants pacbio variant-calling somatic-mutations illumina snvs long-reads ont long-read-sequencing tumors tumor-only
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Sep 9, 2026 - Python
A method for variant graph genotyping based on exact alignment of k-mers
ngs bayesian-inference variant-calling indels gibbs-sampling structural-variation snvs dna-sequencing genotyping k-mers variant-graphs
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Apr 1, 2019 - C++
Generic human DNA variant annotation pipeline
docker workflow gene singularity vcf variants snv vep disease-gene-association indels annotation-tool vcfanno germline variant-annotations annotation-framework snvs
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Aug 11, 2026 - Python
Detect and phase minor SNVs from long-read sequencing data
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Dec 28, 2021 - C++
Filters for Next Generation Sequencing
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Oct 31, 2024 - Python
A collection of Python modules equivalent to R ReQTL Toolkit aims to identify the association between expressed SNVs with their gene expression using RNA-sequencing data.
python data-science bioinformatics rna-seq r numpy gene-expression pandas python3 scipy rna-seq-analysis bioinformatics-analysis snvs rpy2 bioinformatics-tool matrixeqtl
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Jan 20, 2022 - Python
A collection of software to work with genomic variants
vcf variants snv variant-filtration variant-analysis snvs trio de-novo-mutation single-nucleotide-variation de-novo-mutations compound-heterozygous um1da058230
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May 7, 2026 - Python
This repository will house the scripts used to analyze and represent genomic and temperature data for my dissertation.
ggplot2 bioinformatics snps scripts awk temperature bioinformatics-pipeline samtools bwa-mem bash-scripting snvs awk-script mutect2 mitochondria mitochondrial-variants mitochondrial-genomes
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Oct 2, 2022 - Shell
A snakemake pipeline that performs variant calling of Nanopore reads from FastQ files for non-model organisms
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Oct 13, 2022 - Python
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