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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...
Autores principales: | Hakenberg, Jörg, Cheng, Wei-Yi, Thomas, Philippe, Wang, Ying-Chih, Uzilov, Andrew V., Chen, Rong |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
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 |
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