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Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets.

PLoS computational biology - 1 Mar 2018

Samadian Soroush, Bruce Jeff P, Pugh Trevor J

Abstract excerpt

Somatic copy number variations (CNVs) play a crucial role in development of many human cancers. The broad availability of next-generation sequencing data has enabled the development of algorithms to computationally infer CNV profiles from a variety of data types including exome and targeted sequence data; currently the most prevalent types of cancer genomics data. However, systemic evaluation and comparison of...

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PMID: 29590101
DOI: 10.1371/journal.pcbi.1006080
PMCID: PMC5891060

Genes

EGFR

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