Open AccessGenomic sequencing identifies secondary findings in a cohort of parent study participants
Author(s) -
Michelle L. Thompson,
Candice R. Finnila,
Kevin M. Bowling,
Kyle B. Brothers,
Matthew B. Neu,
Michelle D. Amaral,
Susan M. Hiatt,
Kelly M. East,
Stacy W. Gray,
James M.J. Lawlor,
Whitley V. Kelley,
Edward J. Lose,
Carla A. Rich,
Shirley Simmons,
Shawn Levy,
R Myers,
Gregory S. Barsh,
E. Martina Bebin,
Gregory M. Cooper
Publication year - 2018
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1038/gim.2018.53
Subject(s) - exome sequencing , medical genetics , disease , medical diagnosis , medicine , family history , intellectual disability , genomics , cohort , exome , copy number variation , genetics , genome , gene , biology , mutation , pathology
Clinically relevant secondary variants were identified in parents enrolled with a child with developmental delay and intellectual disability.
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