Open AccessFrequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes
Author(s) -
MiAe Jang,
Sang-Heon Lee,
Namshin Kim,
ChangSeok Ki
Publication year - 2015
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.2015.26
Subject(s) - exome sequencing , exome , medical genetics , genomics , medicine , genetics , biology , gene , genome , mutation
One of the biggest challenges of exome and genome sequencing in the era of genomic medicine is the identification and reporting of secondary findings. In this study we investigated the frequency and spectrum of actionable pathogenic secondary findings in Korean exomes.
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