A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree

Improvement of variant calling in next-generation sequence data requires a comprehensive, genome-wide catalog of high-confidence variants called in a set of genomes for use as a benchmark. We generated deep, whole-genome sequence data of 17 individuals in a three-generation pedigree and called varia...

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Detalles Bibliográficos
Autores principales: Eberle, Michael A., Fritzilas, Epameinondas, Krusche, Peter, Källberg, Morten, Moore, Benjamin L., Bekritsky, Mitchell A., Iqbal, Zamin, Chuang, Han-Yu, Humphray, Sean J., Halpern, Aaron L., Kruglyak, Semyon, Margulies, Elliott H., McVean, Gil, Bentley, David R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2017
Materias:
Resource
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5204340/
https://www.ncbi.nlm.nih.gov/pubmed/27903644
http://dx.doi.org/10.1101/gr.210500.116

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5204340/
https://www.ncbi.nlm.nih.gov/pubmed/27903644
http://dx.doi.org/10.1101/gr.210500.116

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