PureCN: copy number calling and SNV classification using targeted short read sequencing.

Markus RiesterAngad P SinghA Rose BrannonKun YuCatarina D CampbellDerek Y ChiangMichael P Morrissey

Published in: Source code for biology and medicine (2016)

Our algorithm provides accurate estimates of tumor purity and ploidy, even if matched normal samples are not available. This in turn allows accurate classification of SNVs. The software is provided as open source (Artistic License 2.0) R/Bioconductor package PureCN (http://bioconductor.org/packages/PureCN/).

Keyphrases

copy number
deep learning
machine learning
mitochondrial dna
genome wide
high resolution
dna methylation
single cell
fluorescent probe
living cells
cancer therapy
data analysis
drug delivery
mass spectrometry