Generating a Taxonomy for Genetic Conditions Relevant to Reproductive Planning

As genome or exome sequencing (hereafter genome-scale sequencing) becomes more integrated into standard care, carrier testing is an important possible application. Carrier testing using genome-scale sequencing can identify a large number of conditions, but choosing which conditions/genes to evaluate...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Am J Med Genet A
Prif Awduron: Korngiebel, Diane M, McMullen, Carmit, Amendola, Laura, Berg, Jonathan S, Davis, James V, Gilmore, Marian J, Harding, Cary, Himes, Patricia, Jarvik, Gail P, Kauffman, Tia L, Kennedy, Kathleen, Simpson, Dana Kostiner, Leo, Michael C, Lynch, Frances, Quigley, Denise, Reiss, Jacob A, Richards, C. Sue, Rope, Alan, Schneider, Jennifer L, Goddard, Katrina AB, Wilfond, Benjamin S
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2016
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4860293/
https://ncbi.nlm.nih.gov/pubmed/26889673
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37513
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