Integrating 400 million variants from 80,000 human samples with extensive annotations: towards a knowledge base to analyze disease cohorts

BACKGROUND: Data from a plethora of high-throughput sequencing studies is readily available to researchers, providing genetic variants detected in a variety of healthy and disease populations. While each individual cohort helps gain insights into polymorphic and disease-associated variants, a joint...

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Detalles Bibliográficos
Autores principales: Hakenberg, Jörg, Cheng, Wei-Yi, Thomas, Philippe, Wang, Ying-Chih, Uzilov, Andrew V., Chen, Rong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Database
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4706706/
https://www.ncbi.nlm.nih.gov/pubmed/26746786
http://dx.doi.org/10.1186/s12859-015-0865-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4706706/
https://www.ncbi.nlm.nih.gov/pubmed/26746786
http://dx.doi.org/10.1186/s12859-015-0865-9

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