High number of candidate gene variants are identified as disease-causing in a period of 4 years.

American journal of medical genetics. Part A
Authors
Keywords
Abstract

Advances in bioinformatic tools paired with the ongoing accumulation of genetic knowledge and periodic reanalysis of genomic sequencing data have led to an improvement in genetic diagnostic rates. Candidate gene variants (CGVs) identified during sequencing or on reanalysis but not yet implicated in human disease or associated with a phenotypically distinct condition are often not revisited, leading to missed diagnostic opportunities. Here, we revisited 33 such CGVs from our previously published study and determined that 16 of them are indeed disease-causing (novel or phenotype expansion) since their identification. These results emphasize the need to focus on previously identified CGVs during sequencing or reanalysis and the importance of sharing that information with researchers around the world, including relevant functional analysis to establish disease causality.

Year of Publication
2023
Journal
American journal of medical genetics. Part A
Date Published
12/2023
ISSN
1552-4833
DOI
10.1002/ajmg.a.63509
PubMed ID
38158391
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