Journal article icon

Journal article

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...

Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

Actions


Access Document


Files:
Publisher copy:
10.1093/bioinformatics/btw587

Authors


More by this author
Department:
Oxford, MSD, NDM, Human Genetics Wt Centre
Role:
Author
More by this author
Department:
Oxford, MSD, Oncology
Role:
Author
More by this author
Department:
Oxford, MSD, NDM, Human Genetics Wt Centre
Role:
Author
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
Paper number:
2
Language:
English
Keywords:

Terms of use


Metrics


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP