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ascatNgs: Identifying Somatically Acquired Copy‐Number Alterations from Whole‐Genome Sequencing Data

2016; Wiley; Volume: 56; Issue: 1 Linguagem: Inglês

10.1002/cpbi.17

1934-340X

Keiran Raine, Peter Van Loo, David C. Wedge, David Jones, Andrew Menzies, Adam P. Butler, Jon W. Teague, Patrick Tarpey, Serena Nik‐Zainal, Peter J. Campbell,

Genetic factors in colorectal cancer

Abstract We have developed ascatNgs to aid researchers in carrying out Allele‐Specific Copy number Analysis of Tumours (ASCAT). ASCAT is capable of detecting DNA copy number changes affecting a tumor genome when comparing to a matched normal sample. Additionally, the algorithm estimates the amount of tumor DNA in the sample, known as Aberrant Cell Fraction (ACF). ASCAT itself is an R‐package which requires the generation of many file types. Here, we present a suite of tools to help handle this for the user. Our code is available on our GitHub site ( https://github.com/cancerit ). This unit describes both ‘one‐shot’ execution and approaches more suitable for large‐scale compute farms. © 2016 by John Wiley & Sons, Inc.