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The impact of rare and low-frequency genetic variants in common disease

Despite thousands of genetic loci identified to date, a large proportion of genetic variation predisposing to complex disease and traits remains unaccounted for. Advances in sequencing technology enable focused explorations on the contribution of low-frequency and rare variants to human traits. Here...

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Detalles Bibliográficos
Publicado en:Genome Biol
Autores principales: Bomba, Lorenzo, Walter, Klaudia, Soranzo, Nicole
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2017
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5408830/
https://ncbi.nlm.nih.gov/pubmed/28449691
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-017-1212-4
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