Projects | Open Source Science

Projects

Updated 9 months ago

sigminer • Rank 13.7 • Science 49%

🌲 An easy-to-use and scalable toolkit for genomic alteration signature (a.k.a. mutational signature) analysis and visualization in R https://shixiangwang.github.io/sigminer/reference/index.html

bayesian-nmf bioinformatics cancer-research cnv copynumber-signatures cosmic-signatures dbs easy-to-use indel mutational-signatures nmf nmf-extraction r sbs signature-extraction somatic-mutations somatic-variants visualization

Updated 9 months ago

CNVMetrics • Rank 12.8 • Science 23%

R Package to compare copy number variant (CNV) results from multiple samples/methods

cnv copy-number-variation metrics package r r-language r-package

Updated 9 months ago

sawfish • Science 57%

Joint structural variant and copy number variant caller for HiFi sequencing data

cnv hifi structural-variants structural-variation variant-calling

Updated 9 months ago

sideretro • Science 57%

A pipeline for detecting Somatic Insertion of DE novo RETROcopies

cnv genotype mobile-elements next-generation-sequencing polimorphism pseudogenes retrocopy wes wgs

Updated 9 months ago

cnakepit • Science 67%

A Snakemake pipeline for copy number variant calling without normal tissue samples

bioinformatics bwa cna cnv cnvkit conda copynumbervariation mutect2 panels purecn sequencing-data snakemake targeted-sequencing