Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium-Reference-Cited by-同舟云学术

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Published:2016-06 Issue:6 Volume:98 Page:1067-1076
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Amendola Laura M.,Jarvik Gail P.,Leo Michael C.,McLaughlin Heather M.,Akkari Yassmine,Amaral Michelle D.,Berg Jonathan S.,Biswas Sawona,Bowling Kevin M.,Conlin Laura K.,Cooper Greg M.,Dorschner Michael O.,Dulik Matthew C.,Ghazani Arezou A.,Ghosh Rajarshi,Green Robert C.,Hart Ragan,Horton Carrie,Johnston Jennifer J.,Lebo Matthew S.,Milosavljevic Aleksandar,Ou Jeffrey,Pak Christine M.,Patel Ronak Y.,Punj Sumit,Richards Carolyn Sue,Salama Joseph,Strande Natasha T.,Yang Yaping,Plon Sharon E.,Biesecker Leslie G.,Rehm Heidi L.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference26 articles.

1. Taxonomizing, sizing, and overcoming the incidentalome;Kohane;Genet. Med.,2012

2. The FDA and genomic tests--getting regulation right;Evans;N. Engl. J. Med.,2015

3. ClinGen--the Clinical Genome Resource;Rehm;N. Engl. J. Med.,2015

4. Actionable exomic incidental findings in 6503 participants: challenges of variant classification;Amendola;Genome Res.,2015

5. Use of panel tests in place of single gene tests in the cancer genetics clinic;Yorczyk;Clin. Genet.,2015

Cited by 386 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Considerations for reporting variants in novel candidate genes identified during clinical genomic testing;Genetics in Medicine;2024-10

2. Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment;Frontiers in Oncology;2024-09-05

3. Genetics of MDH in humans;Essays in Biochemistry;2024-07-22

4. Identification of key molecular pathways and genes in BRCA1 and BRCA2-mutant ovarian cancer: evidence from bioinformatics analysis;Genome Instability & Disease;2024-07-12

5. Inconsistencies between prenatal diagnostic and genetic testing laboratories on variant validation of rare monogenic diseases;Prenatal Diagnosis;2024-06-19