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Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing

BACKGROUND: Genetic screening to identify carriers of autosomal recessive diseases has become an integral part of routine prenatal care. In spite of the rapid growth of known mutations, most current screening programs include only a small subset of these mutations, and are performed using diverse mo...

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Detalles Bibliográficos
Autores principales: Gal, Moran, Khermesh, Khen, Barak, Michal, Lin, Min, Lahat, Hadas, Reznik Wolf, Haike, Lin, Michael, Pras, Elon, Levanon, Erez Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4865987/
https://www.ncbi.nlm.nih.gov/pubmed/27175728
http://dx.doi.org/10.1186/s12920-016-0184-7