Journal article
Comparison of genetic variants in matched samples using thesaurus annotation
- Abstract:
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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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(Version of record, pdf, 644.0KB)
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(Version of record, pdf, 502.2KB)
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- Publisher copy:
- 10.1093/bioinformatics/btv654
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Authors
Funding
Bibliographic Details
- Publisher:
- Oxford University Press Publisher's website
- Journal:
- Bioinformatics Journal website
- Publication date:
- 2015-01-01
- DOI:
- EISSN:
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1460-2059
- ISSN:
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1367-4803
- Source identifiers:
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574526
Item Description
- Pubs id:
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pubs:574526
- UUID:
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uuid:a0654df9-6f6e-457a-9aa9-c781fa708016
- Local pid:
- pubs:574526
- Deposit date:
- 2015-11-20
Terms of use
- Copyright holder:
- Konopka and Nijman
- Copyright date:
- 2015
- Notes:
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Copyright © The Author(s) 2015. Published by Oxford University Press.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
- Licence:
- CC Attribution (CC BY)
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