Calibration of variant effect predictors on genome-wide data masks heterogeneous performance across genes-Reference-Cited by-同舟云学术

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Calibration of variant effect predictors on genome-wide data masks heterogeneous performance across genes

Published:2024-09 Issue:9 Volume:111 Page:2031-2043
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Tejura Malvika^ORCID,Fayer Shawn,McEwen Abbye E.,Flynn Jake,Starita Lea M.^ORCID,Fowler Douglas M.^ORCID

Publisher

Elsevier BV

Reference29 articles.

1. 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

2. Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing;Chen;JAMA Netw. Open,2023

3. Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN;Fayer;Am. J. Hum. Genet.,2021

4. Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing;Horton;JAMA Oncol.,2024

5. ClinVar: improving access to variant interpretations and supporting evidence;Landrum;Nucleic Acids Res.,2018

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