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

Abstract:

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×, respectively, using the HiSeq2500 HTv4. Subtracted tumor VCFs and paired germline...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1101/mcs.a002279

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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Oncology
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
NDM; Human Genetics Wt Centre
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Oncology
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Oncology
Role:
Author
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National Institute for Health Research More from this funder
Publisher:
Cold Spring Harbor Laboratory Press Publisher's website
Journal:
Cold Spring Harbor Molecular Case Studies Journal website
Volume:
4
Issue:
2
Article number:
a002279
Publication date:
2018-04-02
Acceptance date:
2018-02-09
DOI:
ISSN:
2373-2873
Source identifiers:
825452
Keywords:
Pubs id:
pubs:825452
UUID:
uuid:7b4a3e84-0cef-44bc-b268-78161b2ff53a
Local pid:
pubs:825452
Deposit date:
2018-02-20

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