P166: Characterization of phenotype and effect on diagnostic yield in a patient population undergoing clinical genome wide sequencing

Genetics in Medicine Open 2026 Open access

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Authors: Anna Szuto, Caitlin Chisholm, Meredith Gillespie, Lynette Y. S. Lau, Lijia Huang, Martin J. Somerville, Kym Boycott, Nan Wu, Christian R. Marshall
DOI: 10.1016/j.gimo.2026.103660
Cited by: 0

Abstract

Genome-Wide Sequencing Ontario (GSO) is provincial platform developed by the Hospital for Sick Children (SickKids) and CHEO (Children’s Hospital of Eastern Ontario) to deliver exome and genome sequencing to patients with a suspected rare disease. Since 2021, the GSO platform has tested patients with a wide array of clinical indications, namely developmental delay/intellectual disability and or multiple congenital malformations. As clinical criteria continue to broaden for exome and genome sequencing, it is important at a system level to track diagnostic utility across phenotypic categories.

Fields of Study & Subjects

Genomics and Rare Diseases Metabolism and Genetic Disorders Connective tissue disorders research

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103660–103660
Publication date
1 January 2026
Language
EN