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The UK10K project identifies rare variants in health and disease

The contribution of rare and low-frequency variants to human traits is largely unexplored. Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes (high read depth, 80×) of nearly 10,000 individuals from population-based and disease collections. In extensively phenotyp...

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Detalhes bibliográficos
Publicado no:Nature
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4773891/
https://ncbi.nlm.nih.gov/pubmed/26367797
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nature14962
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