作者
Hane Lee, Joshua L Deignan, Naghmeh Dorrani, Samuel P Strom, Sibel Kantarci, Fabiola Quintero-Rivera, Kingshuk Das, Traci Toy, Bret Harry, Michael Yourshaw, Michelle Fox, Brent L Fogel, Julian A Martinez-Agosto, Derek A Wong, Vivian Y Chang, Perry B Shieh, Christina GS Palmer, Katrina M Dipple, Wayne W Grody, Eric Vilain, Stanley F Nelson
发表日期
2014/11/12
期刊
Jama
卷号
312
期号
18
页码范围
1880-1887
出版商
American Medical Association
简介
Importance
Clinical exome sequencing (CES) is rapidly becoming a common molecular diagnostic test for individuals with rare genetic disorders.
Objective
To report on initial clinical indications for CES referrals and molecular diagnostic rates for different indications and for different test types.
Design, Setting, and Participants
Clinical exome sequencing was performed on 814 consecutive patients with undiagnosed, suspected genetic conditions at the University of California, Los Angeles, Clinical Genomics Center between January 2012 and August 2014. Clinical exome sequencing was conducted as trio-CES (both parents and their affected child sequenced simultaneously) to effectively detect de novo and compound heterozygous variants or as proband-CES (only the affected individual sequenced) when parental samples were not available.
Main Outcomes and Measures
Clinical indications for CES requests …
学术搜索中的文章
H Lee, JL Deignan, N Dorrani, SP Strom, S Kantarci… - Jama, 2014