Article
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Genome research - 1 Mar 2015
Amendola Laura M, Dorschner Michael O, Robertson Peggy D, Salama Joseph S, Hart Ragan, Shirts Brian H, Murray Mitzi L, Tokita Mari J, Gallego Carlos J, Kim Daniel Seung, Bennett James T, Crosslin David R, Ranchalis Jane, Jones Kelly L, Rosenthal Elisabeth A, Jarvik Ella R, Itsara Andy, Turner Emily H, Herman Daniel S, Schleit Jennifer, Burt Amber, Jamal Seema M, Abrudan Jenica L, Johnson Andrew D, Conlin Laura K, Dulik Matthew C, Santani Avni, Metterville Danielle R, Kelly Melissa, Foreman Ann Katherine M, Lee Kristy, Taylor Kent D, Guo Xiuqing, Crooks Kristy, Kiedrowski Lesli A, Raffel Leslie J, Gordon Ora, Machini Kalotina, Desnick Robert J, Biesecker Leslie G, Lubitz Steven A, Mulchandani Surabhi, Cooper Greg M, Joffe Steven, Richards C Sue, Yang Yaoping, Rotter Jerome I, Rich Stephen S, O'Donnell Christopher J, Berg Jonathan S, Spinner Nancy B, Evans James P, Fullerton Stephanie M, Leppig Kathleen A, Bennett Robin L, Bird Thomas, Sybert Virginia P, Grady William M, Tabor Holly K, Kim Jerry H, Bamshad Michael J, Wilfond Benjamin, Motulsky Arno G, Scott C Ronald, Pritchard Colin C, Walsh Tom D, Burke Wylie, Raskind Wendy H, Byers Peter, Hisama Fuki M, Rehm Heidi, Nickerson Debbie A, Jarvik Gail P
Abstract excerpt
Recommendations for laboratories to report incidental findings from genomic tests have stimulated interest in such results. In order to investigate the criteria and processes for assigning the pathogenicity of specific variants and to estimate the frequency of such incidental findings in patients of European and African ancestry, we classified potentially actionable pathogenic single-nucleotide variants (SNVs) in...
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