Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory

Advances in sequencing technologies permit the analysis of a larger selection of genes for preconception carrier screening. The study was designed as a sequential carrier screen using genome sequencing to analyze 728 gene-disorder pairs for carrier and medically actionable conditions in 131 women an...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Punj, Sumit, Akkari, Yassmine, Huang, Jennifer, Yang, Fei, Creason, Allison, Pak, Christine, Potter, Amiee, Dorschner, Michael O., Nickerson, Deborah A., Robertson, Peggy D., Jarvik, Gail P., Amendola, Laura M., Schleit, Jennifer, Simpson, Dana Kostiner, Rope, Alan F., Reiss, Jacob, Kauffman, Tia, Gilmore, Marian J., Himes, Patricia, Wilfond, Benjamin, Goddard, Katrina A.B., Richards, C. Sue
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5992121/
https://ncbi.nlm.nih.gov/pubmed/29754767
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.04.004
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