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Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

Authors :
Allison A. Regier
Yossi Farjoun
David E. Larson
Olga Krasheninina
Hyun Min Kang
Daniel P. Howrigan
Bo-Juen Chen
Manisha Kher
Eric Banks
Darren C. Ames
Adam C. English
Heng Li
Jinchuan Xing
Yeting Zhang
Tara Matise
Goncalo R. Abecasis
Will Salerno
Michael C. Zody
Benjamin M. Neale
Ira M. Hall
Source :
Nature Communications, Vol 9, Iss 1, Pp 1-8 (2018)
Publication Year :
2018
Publisher :
Nature Portfolio, 2018.

Abstract

Sharing of whole genome sequencing (WGS) data improves study scale and power, but data from different groups are often incompatible. Here, US genome centers and NIH programs define WGS data processing standards and a flexible validation method, facilitating collaboration in human genetics research.

Subjects

Subjects :
Science

Details

Language :
English
ISSN :
20411723
Volume :
9
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Nature Communications
Publication Type :
Academic Journal
Accession number :
edsdoj.0ebc7f3c469f4ca081434ec64d244d5f
Document Type :
article
Full Text :
https://doi.org/10.1038/s41467-018-06159-4