Overcalling secondary findings

Genetics in Medicine

Volumn 18, Issue 4, 2016, Pages 416-

  Biesecker, Leslie G ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA GLYCOSYLASE MUTY; RYANODINE RECEPTOR 1;

ALLELE; DOMINANT INHERITANCE; EUROPEAN AMERICAN; EXOME; FALSE POSITIVE RESULT; FOLLOW UP; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; INCIDENTAL FINDING; KOREAN (PEOPLE); LETTER; LOSS OF FUNCTION MUTATION; MALIGNANT HYPERTHERMIA; MISSENSE MUTATION; MYOPATHY; RECESSIVE INHERITANCE; GENOMICS;

EXOME; GENOMICS; HUMANS; INCIDENTAL FINDINGS;

EID: 84962541738     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2016.19     Document Type: Letter

References (3)

1. Jang MA, Lee SH, Kim N, Ki CS. Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes. Genet Med 2015;17:1007-1011.
2. Green RC, Berg JS, Grody WW, et al.; American College of Medical Genetics and Genomics. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 2013;15:565-574.
3. Kim DW, Kim IJ, Kang HC, et al. Germline mutations of the MYH gene in Korean patients with multiple colorectal adenomas. Int J Colorectal Dis 2007;22: 1173-1178.