Open AccessTaxonomizing, sizing, and overcoming the incidentalome
Author(s) -
Isaac S. Kohane,
Michael Hsing,
Sek Won Kong
Publication year - 2012
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.2011.68
Subject(s) - false positive paradox , annotation , whole genome sequencing , medicine , penetrance , population , false positives and false negatives , genome , computer science , biology , artificial intelligence , genetics , environmental health , gene , phenotype
With the advent of whole-genome sequencing made clinically available, the number of incidental findings is likely to rise. The false-positive incidental findings are of particular clinical concern. We provide estimates on the size of these false-positive findings and classify them into four broad categories.
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