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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Publicat a:Am J Hum Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2018
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Article
Accés en línia: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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