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A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder Population
The decreasing cost of whole-genome and whole-exome sequencing has resulted in a renaissance for identifying Mendelian disease mutations, and for the first time it is possible to survey the distribution and characteristics of these mutations in large population samples. We conducted carrier screenin...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3484657/ https://ncbi.nlm.nih.gov/pubmed/22981120 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.08.007 |
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