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

Hundreds of thousands of human whole genome sequencing (WGS) datasets will be generated over the next few years. These data are more valuable in aggregate: joint analysis of genomes from many sources increases sample size and statistical power. A central challenge for joint analysis is that differen...

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Detalles Bibliográficos
Autores principales: Regier, Allison A., Farjoun, Yossi, Larson, David E., Krasheninina, Olga, Kang, Hyun Min, Howrigan, Daniel P., Chen, Bo-Juen, Kher, Manisha, Banks, Eric, Ames, Darren C., English, Adam C., Li, Heng, Xing, Jinchuan, Zhang, Yeting, Matise, Tara, Abecasis, Goncalo R., Salerno, Will, Zody, Michael C., Neale, Benjamin M., Hall, Ira M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6168605/
https://www.ncbi.nlm.nih.gov/pubmed/30279509
http://dx.doi.org/10.1038/s41467-018-06159-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6168605/
https://www.ncbi.nlm.nih.gov/pubmed/30279509
http://dx.doi.org/10.1038/s41467-018-06159-4

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