Journal article
ReliableGenome : annotation of genomic regions with high/low variant calling concordance
- Abstract:
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The increasing adoption of clinical whole-genome resequencing (WGS) demands for highly-accurate and reproducible variant calling (VC) methods. The observed discordance between state-of-the-art VC pipelines, however, indicates that the current practice still suffers from non-negligible numbers of false positive and negative SNV and INDEL calls that were shown to be enriched among discordant calls but also in genomic regions with low sequence complexity.Here, we describe our method ReliableGeno...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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- Files:
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(Version of record, pdf, 325.3KB)
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- Publisher copy:
- 10.1093/bioinformatics/btw587
Authors
Funding
National Institute for Health Research Oxford Biomedical Research Centre
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Bibliographic Details
- Publisher:
- Oxford University Press Publisher's website
- Journal:
- Bioinformatics Journal website
- Volume:
- 33
- Issue:
- 2
- Pages:
- 155-160
- Publication date:
- 2016-09-07
- DOI:
- EISSN:
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1367-4811
- ISSN:
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1367-4803
- Pmid:
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27605105
Item Description
- Language:
- English
- Keywords:
- Pubs id:
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pubs:642554
- UUID:
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uuid:a1496fd1-3e98-4671-a4d1-be563e45e6c4
- Local pid:
- pubs:642554
- Deposit date:
- 2016-10-05
Terms of use
- Copyright holder:
- Popitsch et al
- Copyright date:
- 2016
- Notes:
-
Copyright © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com
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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