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ReliableGenome : annotation of genomic regions with high/low variant calling concordance

Abstract:

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
Version:
Publisher's version

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Publisher copy:
10.1093/bioinformatics/btw587

Authors


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Department:
Oxford, MSD, NDM, Human Genetics Wt Centre
More by this author
Department:
Oxford, MSD, Oncology
More by this author
Department:
Oxford, MSD, NDM, Human Genetics Wt Centre
National Institute for Health Research Oxford Biomedical Research Centre More from this funder
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:
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:

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