An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals

PURPOSE: Recent developments in genomics have led to expanded carrier screening panels capable of assessing hundreds of causal mutations for genetic disease. This new technology enables simultaneous measurement of carrier frequencies for many diseases. As the resultant rank-ordering of carrier frequ...

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Detalles Bibliográficos
Autores principales: Lazarin, Gabriel A., Haque, Imran S., Nazareth, Shivani, Iori, Kevin, Patterson, A. Scott, Jacobson, Jessica L., Marshall, John R., Seltzer, William K., Patrizio, Pasquale, Evans, Eric A., Srinivasan, Balaji S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2013
Materias:
Original Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3908551/
https://www.ncbi.nlm.nih.gov/pubmed/22975760
http://dx.doi.org/10.1038/gim.2012.114

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