A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

Genetics in Medicine

Volumn 19, Issue 5, 2017, Pages 575-582

  O'Daniel, Julianne M ^a   McLaughlin, Heather M ^b   Amendola, Laura M ^c   Bale, Sherri J ^d   Berg, Jonathan S ^a   Bick, David ^e   Bowling, Kevin M ^f   Chao, Elizabeth C ^g,h   Chung, Wendy K ⁱ   Conlin, Laura K ^j   Cooper, Gregory M ^f   Das, Soma ^k   Deignan, Joshua L ^l   Dorschner, Michael O ^m   Evans, James P ^a   Ghazani, Arezou A ⁿ   Goddard, Katrina A ^o   Gornick, Michele ^p   Farwell Hagman, Kelly D ^g   Hambuch, Tina ^q   Hegde, Madhuri ^r   Hindorff, Lucia A ^z   Holm, Ingrid A ^aa,ab   Jarvik, Gail P ^c,m   Knight Johnson, Amy ^k   Mighion, Lindsey ^r   Morra, Massimo ^s   Plon, Sharon E ^t   Punj, Sumit ^u   Richards, C Sue ^u   Santani, Avni ^j   Shirts, Brian H ^m   Spinner, Nancy B ^j   Tang, Sha ^g   Weck, Karen E ^a   Wolf, Susan M ^v   Yang, Yaping ^w   Rehm, Heidi L ^x,y   more..

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

^b LABORATORY FOR MOLECULAR MEDICINE   (United States)

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

^d GENEDX   (United States)

^e MEDICAL COLLEGE OF WISCONSIN   (United States)

^f HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY   (United States)

^g AMBRY GENETICS   (United States)

^h UNIVERSITY OF CALIFORNIA   (United States)

ⁱ Och Spine at New York Presbyterian Hospitals   (United States)

^j CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^k UNIVERSITY OF CHICAGO   (United States)

^l UNIVERSITY OF CALIFORNIA   (United States)

^m UNIVERSITY OF WASHINGTON   (United States)

ⁿ DANA FARBER CANCER INSTITUTE   (United States)

^o KAISER PERMANENTE   (United States)

^p UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^q ILLUMINA INC   (United States)

^r EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^s Personalis   (United States)

^t BAYLOR COLLEGE OF MEDICINE   (United States)

^u OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^v Medical School   (United States)

^w BAYLOR GENETICS   (United States)

^x BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^y BRIGHAM AND WOMEN S HOSPITAL   (United States)

^z NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^aa BOSTON CHILDREN S HOSPITAL   (United States)

^ab HARVARD MEDICAL SCHOOL   (United States)

more..

Author keywords

clinical reporting; exome sequencing; genetic testing; genome sequencing; laboratory standards

Indexed keywords

CASE REPORT; CASE STUDY; CONSENSUS DEVELOPMENT; DOCUMENTATION; FEMALE; FOLLOW UP; GENETIC SCREENING; HUMAN; INTERVIEW; MALE; STANDARDIZATION; WHOLE EXOME SEQUENCING; WORKFLOW; DNA SEQUENCE; ETHICS; INCIDENTAL FINDING; INFORMATION DISSEMINATION; INTERPERSONAL COMMUNICATION; LABORATORY; PRACTICE GUIDELINE; PROCEDURES; QUESTIONNAIRE; RESEARCH; SAMPLE SIZE; STANDARDS;

DISCLOSURE; GENETIC TESTING; HUMANS; INCIDENTAL FINDINGS; INFORMATION DISSEMINATION; LABORATORIES; PRACTICE GUIDELINES AS TOPIC; RESEARCH REPORT; SAMPLE SIZE; SEQUENCE ANALYSIS, DNA; SURVEYS AND QUESTIONNAIRES;

EID: 85021701521     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2016.152     Document Type: Article

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