Identification of Misclassified ClinVar Variants via Disease Population Prevalence
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference39 articles.
1. Settling the score: variant prioritization and Mendelian disease;Eilbeck;Nat. Rev. Genet.,2017
2. The promise and peril of genomic screening in the general population;Adams;Genet. Med.,2016
3. Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the clinical sequencing exploratory research Consortium;Amendola;Am. J. Hum. Genet.,2016
4. ClinGen–the clinical genome resource;Rehm;N. Engl. J. Med.,2015
5. 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;Richards;Genet. Med.,2015
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