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Article

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

American journal of medical genetics. Part A - 1 May 2024

Hills Sonia, Li Qifei, Madden Jill A, Genetti Casie A, Brownstein Catherine A, Schmitz-Abe Klaus, Beggs Alan H, Agrawal Pankaj B

Abstract excerpt

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...

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PMID: 38158391
DOI: 10.1002/ajmg.a.63509

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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