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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Nature Portfolio
2018
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oai:doaj.org-article:0ebc7f3c469f4ca081434ec64d244d5f2021-12-02T14:39:47ZFunctional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects10.1038/s41467-018-06159-42041-1723https://doaj.org/article/0ebc7f3c469f4ca081434ec64d244d5f2018-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-06159-4https://doaj.org/toc/2041-1723Sharing 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.Allison A. RegierYossi FarjounDavid E. LarsonOlga KrashenininaHyun Min KangDaniel P. HowriganBo-Juen ChenManisha KherEric BanksDarren C. AmesAdam C. EnglishHeng LiJinchuan XingYeting ZhangTara MatiseGoncalo R. AbecasisWill SalernoMichael C. ZodyBenjamin M. NealeIra M. HallNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-8 (2018) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Science Q |
| spellingShingle |
Science Q 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 Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects |
| description |
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. |
| format |
article |
| author |
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 |
| author_facet |
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 |
| author_sort |
Allison A. Regier |
| title |
Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects |
| title_short |
Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects |
| title_full |
Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects |
| title_fullStr |
Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects |
| title_full_unstemmed |
Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects |
| title_sort |
functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects |
| publisher |
Nature Portfolio |
| publishDate |
2018 |
| url |
https://doaj.org/article/0ebc7f3c469f4ca081434ec64d244d5f |
| work_keys_str_mv |
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