Ontology highlight
ABSTRACT:
SUBMITTER: Kochan DC
PROVIDER: S-EPMC7198538 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Kochan David C DC Winkler Erin E Lindor Noralane N Shaibi Gabriel Q GQ Olson Janet J Caraballo Pedro J PJ Freimuth Robert R Pacyna Joel E JE Breitkopf Carmen Radecki CR Sharp Richard R RR Kullo Iftikhar J IJ
NPJ genomic medicine 20200504
To inform the process of returning results in genome sequencing studies, we conducted a quantitative and qualitative assessment of challenges encountered during the Return of Actionable Variants Empiric (RAVE) study conducted at Mayo Clinic. Participants (<i>n</i> = 2535, mean age 63 ± 7, 57% female) were sequenced for 68 clinically actionable genes and 14 single nucleotide variants. Of 122 actionable results detected, 118 were returnable; results were returned by a genetic counselor-86 in-perso ...[more]