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

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

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.

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Auteurs principaux: 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
Format: article
Langue:EN
Publié: Nature Portfolio 2018
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Science
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Accès en ligne:https://doaj.org/article/0ebc7f3c469f4ca081434ec64d244d5f
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Internet

https://doaj.org/article/0ebc7f3c469f4ca081434ec64d244d5f

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