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Article

Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics.

American journal of medical genetics. Part A - 1 Feb 2023

Mainali Apurba, Athey Taryn, Bahl Shalini, Hung Clara, Caluseriu Oana, Chan Alicia, Eaton Alison, Ghai Shailly Jain, Kannu Peter, MacPherson Melissa, Niederhoffer Karen Y, Siriwardena Komudi, Mercimek-Andrews Saadet

Abstract excerpt

Clinical exome sequencing (ES) is the most comprehensive genomic test to identify underlying genetic diseases in Canada. We performed this retrospective cohort study to investigate the diagnostic yield of clinical ES in adulthood. Inclusion criteria were: (1) Adult patients ≥18 years old; (2) Patients underwent clinical ES between January 1 and December 31, 2021; (3) Patients were seen in the Department of...

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PMID: 36401557
DOI: 10.1002/ajmg.a.63053

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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