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Journal article

Comparison of genetic variants in matched samples using thesaurus annotation

Abstract:
Motivation: Calling changes in DNA, e.g. as a result of somatic events in cancer, requires analysis of multiple matched sequenced samples. Events in low-mappability regions of the human genome are difficult to encode in variant call files and have been under-reported as a result. However, they can be described accurately through thesaurus annotation - a technique that links multiple genomic loci together to explicate a single variant. Results: We here descri... Expand abstract
Publication status:
In press
Peer review status:
Peer reviewed

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Publisher copy:
10.1093/bioinformatics/btv654

Authors


More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Oxford Ludwig Institute
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Oxford Ludwig Institute
Role:
Author
Publisher:
Oxford University Press Publisher's website
Journal:
Bioinformatics Journal website
Publication date:
2015-01-01
DOI:
EISSN:
1460-2059
ISSN:
1367-4803
Source identifiers:
574526
Pubs id:
pubs:574526
UUID:
uuid:a0654df9-6f6e-457a-9aa9-c781fa708016
Local pid:
pubs:574526
Deposit date:
2015-11-20

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