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
Actions
Access Document
- Files:
-
-
(Version of record, pdf, 325.3KB)
-
- Publisher copy:
- 10.1093/bioinformatics/btw587
Why is the content I wish to access not available via ORA?
Bibliographic data (the information relating to research outputs) and full-text items (e.g. articles, theses, reports, etc.) arrive in ORA from several different sources. Unfortunately we are not able to make available the full-text for every research output.
Please contact the ORA team (
) if you have queries regarding unavailable content OR if you are aware of a full-text copy we can make available.
) if you have queries regarding unavailable content OR if you are aware of a full-text copy we can make available.
Content may be unavailable for the following four reasons
-
Version unsuitable
-
We have not obtained a suitable full-text for a given research output. See this page for more information.
-
Recently completed
-
Sometimes content is held in ORA but is unavailable for a fixed period of time to comply with the policies and wishes of rights holders.
-
Permissions
-
All content made available in ORA should comply with relevant rights, such as copyright. See this page for more information.
-
Clearance
-
Some thesis volumes scanned as part of the digitisation scheme funded by Dr Leonard Polonsky are currently unavailable due to sensitive material or uncleared third-party copyright content. We are attempting to contact authors whose theses are affected.
Alternative access to the full-text
You may be able to access the full-text directly from the publisher's website using the 'Publisher Copy' link in the 'Links & Downloads' box from a research output's ORA record page. This method may require an institutional or individual subscription to the journal/resource.
Authors
Funding
National Institute for Health Research Oxford Biomedical Research Centre
More from this funder
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:
-
1367-4811
- ISSN:
-
1367-4803
- Pmid:
-
27605105
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:642554
- UUID:
-
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)
If you are the owner of this record, you can report an update to it here: Report update to this record