Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals-Reference-Cited by-同舟云学术

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Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals

Published:2017-02-01 Issue:4 Volume:25 Page:410-415
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Safarova Maya S,Klee Eric W,Baudhuin Linnea M,Winkler Erin M,Kluge Michelle L,Bielinski Suzette J,Olson Janet E,Kullo Iftikhar J

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2016193.pdf

Reference29 articles.

1. Fabsitz RR, McGuire A, Sharp RR et al: Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group. Circ Cardiovasc Genet 2010; 3: 574–580.

2. MacArthur DG, Manolio TA, Dimmock DP et al: Guidelines for investigating causality of sequence variants in human disease. Nature 2014; 508: 469–476.

3. Green RC, Berg JS, Grody WW et al: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 2013; 15: 565–574.

4. Kullo IJ, Haddad R, Prows CA et al: Return of results in the genomic medicine projects of the eMERGE network. Front Genet 2014; 5: 50.

5. Van Driest SL, Wells QS, Stallings S et al: Association of arrhythmia-related genetic variants with phenotypes documented in electronic medical records. JAMA 2016; 315: 47–57.

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3. Challenging interpretation of germline TP53 variants based on the experience of a national comprehensive cancer centre;Scientific Reports;2023-08-31

4. Interpretation of Incidental Genetic Findings Localizing to Genes Associated With Cardiac Channelopathies and Cardiomyopathies;Circulation: Genomic and Precision Medicine;2021-08

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