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Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences

Exome sequencing has revealed the causative mutations behind numerous rare, inherited disorders, but it is challenging to find reliable epidemiological values for rare disorders. Here, I provide a genetic epidemiology method to identify the causative mutations behind rare, inherited disorders using...

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Detalles Bibliográficos
Autor principal: Fujikura, Kohei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4878778/
https://www.ncbi.nlm.nih.gov/pubmed/27219052
http://dx.doi.org/10.1371/journal.pone.0155552