Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing.

Patricia HimesTia L Kauffman Kristin R Muessig Laura M Amendola Jonathan S BergMichael O DorschnerMarian GilmoreDeborah A NickersonJacob A ReissCarolyn Sue Richards Alan F Rope Dana K Simpson Benjamin S Wilfond David L Veenstra Katrina A B Goddard

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2017)

Categorization of gene-condition pairs using our taxonomy simplifies communication regarding patient preferences for carrier information from a genomic test.Genet Med advance online publication 12 January 2017.

Keyphrases

copy number
health information
genome wide
social media
case report
single cell
healthcare
gene expression
transcription factor