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...

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Pubblicato in:Am J Med Genet A
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2016
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Article
Accesso online: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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