- 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...
Expand abstract - Publication status:
- Published
- Peer review status:
- Peer reviewed
- Version:
- Publisher's version
- Files:
-
-
(pdf, 325.3kb)
-
- Publisher copy:
- 10.1093/bioinformatics/btw587
-
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- 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:
-
1367-4811
- ISSN:
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1367-4803
- Pubs id:
-
pubs:642554
- URN:
-
uri:a1496fd1-3e98-4671-a4d1-be563e45e6c4
- UUID:
-
uuid:a1496fd1-3e98-4671-a4d1-be563e45e6c4
- Local pid:
- pubs:642554
- Language:
- English
- Keywords:
- 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.
Journal article
ReliableGenome : annotation of genomic regions with high/low variant calling concordance
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National Institute for Health Research Oxford Biomedical Research Centre
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