An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of sequence variants

Genetics in Medicine

Volumn 18, Issue 11, 2016, Pages 1165-

  Kleinberger, Jeffrey ^a   Maloney, Kristin A ^a   Pollin, Toni I ^a   Jeng, Linda Jo Bone ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; LETTER; MOLECULAR GENETICS; NEXT GENERATION SEQUENCING; NON INSULIN DEPENDENT DIABETES MELLITUS; PATHOGENICITY; PRACTICE GUIDELINE; STANDARD; COMPUTER INTERFACE; GENETIC SCREENING; GENETIC VARIATION; IMAGE PROCESSING; INTERNET; MEDICAL GENETICS; ONLINE SYSTEM; ORGANIZATION AND MANAGEMENT; PERSONALIZED MEDICINE; PROCEDURES; SOFTWARE; STANDARDS; STATISTICAL ANALYSIS;

DATA INTERPRETATION, STATISTICAL; GENETIC TESTING; GENETIC VARIATION; GENETICS, MEDICAL; HUMANS; IMAGE PROCESSING, COMPUTER-ASSISTED; INTERNET; ONLINE SYSTEMS; PRACTICE GUIDELINES AS TOPIC; PRECISION MEDICINE; SOFTWARE; USER-COMPUTER INTERFACE;

EID: 84994099363     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2016.13     Document Type: Letter

References (2)

1. Richards S, Aziz N, Bale S, et al.; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405-424.
2. Flannick J, Beer NL, Bick AG, et al. Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nat Genet 2013;45:1380-1385.