sigven/pcgr

Various algorithms for analysing genomics data

An ensemble approach to accurately detect somatic mutations using SomaticSeq

cBioPortal for Cancer Genomics

A modular annotation tool for genomic variants

Analysis pipeline to detect germline or somatic variants (pre-processing, variant calling and annotation) from WGS / targeted sequencing

VCF visualization interface

🌲 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

Copy number variant detection from targeted DNA sequencing