Actionable exomic incidental findings in 6503 participants: Challenges of variant classification

Genome Research

Volumn 25, Issue 3, 2015, Pages 305-315

  Amendola, Laura M ^a   Dorschner, Michael O ^a,b   Robertson, Peggy D ^b   Salama, Joseph S ^a   Hart, Ragan ^a   Shirts, Brian H ^b   Murray, Mitzi L ^a,b   Tokita, Mari J ^a   Gallego, Carlos J ^a   Kim, Daniel Seung ^a,b   Bennett, James T ^a   Crosslin, David R ^a,b   Ranchalis, Jane ^a   Jones, Kelly L ^a   Rosenthal, Elisabeth A ^a   Jarvik, Ella R ^a   Itsara, Andy ^a   Turner, Emily H ^b   Herman, Daniel S ^b   Schleit, Jennifer ^b   Burt, Amber ^a   Jamal, Seema M ^a   Abrudan, Jenica L ^c   Johnson, Andrew D ^d   Conlin, Laura K ^c,e   Dulik, Matthew C ^c   Santani, Avni ^c,e   Metterville, Danielle R ^f   Kelly, Melissa ^f   Foreman, Ann Katherine M ^g   Lee, Kristy ^g   Taylor, Kent D ^h   Guo, Xiuqing ^h   Crooks, Kristy ^g   Kiedrowski, Lesli A ⁱ   Raffel, Leslie J ⁿ   Gordon, Ora ^j   Machini, Kalotina ^f,k,l   Desnick, Robert J ^m   Biesecker, Leslie G ⁿ   Lubitz, Steven A ^o   Mulchandani, Surabhi ^c   Cooper, Greg M ^p   Joffe, Steven ^q   Richards, C Sue ^r   Yang, Yaoping ^h   Rotter, Jerome I ^h   Rich, Stephen S ^s   O'Donnell, Christopher J ^d,o   Berg, Jonathan S ^g   Spinner, Nancy B ^c,e   Evans, James P ^g   Fullerton, Stephanie M ^a   Leppig, Kathleen A ^t   Bennett, Robin L ^a   Bird, Thomas ^b,u   Sybert, Virginia P ^a,t   Grady, William M ^a,v   Tabor, Holly K ^a,w   Kim, Jerry H ^b   Bamshad, Michael J ^a,b   Wilfond, Benjamin ^a,w   Motulsky, Arno G ^a,b   Scott, C Ronald ^a   Pritchard, Colin C ^b   Walsh, Tom D ^a   Burke, Wylie ^a   Raskind, Wendy H ^a   Byers, Peter ^a,b   Hisama, Fuki M ^a   Rehm, Heidi ^f,l   Nickerson, Debbie A ^b   Jarvik, Gail P ^a,b   more..

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^d FRAMINGHAM HEART STUDY   (United States)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

^f PARTNERS HEALTHCARE   (United States)

^g UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^h University of Texas Southwestern Medical Center ^*  (United States)

ⁱ UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^j CEDARS SINAI MEDICAL CENTER   (United States)

^k BRIGHAM AND WOMEN S HOSPITAL   (United States)

^l HARVARD MEDICAL SCHOOL   (United States)

^m MOUNT SINAI HOSPITAL   (United States)

ⁿ NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^o MASSACHUSETTS GENERAL HOSPITAL   (United States)

^p HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY   (United States)

^q UNIVERSITY OF PENNSYLVANIA   (United States)

^r OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^s UNIVERSITY OF VIRGINIA   (United States)

^t CENTER FOR HEALTH STUDIES   (United States)

^u VA PUGET SOUND HEALTH CARE SYSTEM   (United States)

^v Fred Hutchinson Cancer Research Center   (United States)

^w SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AFRICAN; ARTICLE; DISEASE CLASSIFICATION; DOMINANT GENE; EUROPEAN; EVOLUTIONARY RATE; EXOME; GENE CONTROL; GENE EXPRESSION PROFILING; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; INCIDENTAL FINDING; KNOWLEDGE BASE; MAJOR CLINICAL STUDY; NONSENSE MEDIATED MRNA DECAY; PRIORITY JOURNAL; QUALITY CONTROL; SINGLE NUCLEOTIDE POLYMORPHISM; ADULT; BLACK PERSON; CAUCASIAN; FEMALE; GENETIC ASSOCIATION; GENETICS; GENOMICS; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; MALE; PHENOTYPE; PROCEDURES;

MAMMALIA;

ADULT; AFRICAN CONTINENTAL ANCESTRY GROUP; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXOME; FEMALE; GENE FREQUENCY; GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; GENOME, HUMAN; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INCIDENTAL FINDINGS; MALE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84923872701     PISSN: 10889051     EISSN: 15495469     Source Type: Journal    
DOI: 10.1101/gr.183483.114     Document Type: Article

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