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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...
Autor principal: | Fujikura, Kohei |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2016
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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 |
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