Version 2 of the PROSIC caller for somatic variants.
https://github.com/PROSIC/prosic2
SNV expectation maximisation based mutation calling algorithm aimed at detecting somatic mutations in paired (tumour/normal) cancer samples. Supports both bam and cram format via htslib
https://github.com/cancerit/CaVEMan
A tool to call somatic single nucleotide variants.
https://github.com/genome/somatic-sniper
An ensemble approach to accurately detect somatic mutations using SomaticSeq
https://github.com/bioinform/somaticseq
Microassembly based somatic variant caller for NGS data
https://github.com/nygenome/lancet
Algorithm to implement Fraction and Copy number Estimate from Tumor/normal Sequencing.
https://github.com/mskcc/facets
Estimating tumor fraction in cell-free DNA from ultra-low-pass whole genome sequencing.
https://github.com/broadinstitute/ichorCNA
A pipeline for processing tumor normal WES data with VarScan2.
https://github.com/dkdeconti/DFCI-CCCB-TumorNormalPair-WES-pipeline
肿瘤自动化报告方案
github地址:
https://github.com/sigven/pcgr
文章地址:
https://academic.oup.com/bioinformatics/advance-article/doi/10.1093/bioinformatics/btx817/4764004
demo报告:
http://folk.uio.no/sigven/tumor_sample.BRCA.0.5.3.pcgr.html
TMB:
领取专属 10元无门槛券
私享最新 技术干货