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Real world outcomes and implementation pathways of exome sequencing in an adult genetic department.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2022

Walsh Maie, West Kirsty, Taylor Jessica A, Thompson Bryony A, Hopkins Adelaide, Sexton Adrienne, Ragunathan Abiramy, Verma Kunal P, Panetta Julie, Matotek Ebony, Fahey Michael C, Christie Michael, Winship Ingrid M, Trainer Alison H, James Paul A

Abstract excerpt

PURPOSE: This study aimed to correlate the indications and diagnostic yield of exome sequencing (ES) in adult patients across various clinical settings. The secondary aim was to examine the clinical utility of ES in adult patients. METHODS: Data on demographics, clinical indications, results, management changes, and cascade testing were collected for 250 consecutive patients who underwent ES through an adult...

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PMID: 35416776
DOI: 10.1016/j.gim.2022.03.010

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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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