Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing.

doi:10.1101/mcs.a002279

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Article

Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing.

Cold Spring Harbor molecular case studies - 1 Apr 2018

Schuh Anna, Dreau Helene, Knight Samantha J L, Ridout Kate, Mizani Tuba, Vavoulis Dimitris, Colling Richard, Antoniou Pavlos, Kvikstad Erika M, Pentony Melissa M, Hamblin Angela, Protheroe Andrew, Parton Marina, Shah Ketan A, Orosz Zsolt, Athanasou Nick, Hassan Bass, Flanagan Adrienne M, Ahmed Ahmed, Winter Stuart, Harris Adrian, Tomlinson Ian, Popitsch Niko, Church David, Taylor Jenny C

Abstract excerpt

Next-generation sequencing (NGS) efforts have established catalogs of mutations relevant to cancer development. However, the clinical utility of this information remains largely unexplored. Here, we present the results of the first eight patients recruited into a clinical whole-genome sequencing (WGS) program in the United Kingdom. We performed PCR-free WGS of fresh frozen tumors and germline DNA at 75× and 30×,...

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PMID: 29610388
DOI: 10.1101/mcs.a002279
PMCID: PMC5880257

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