Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.

doi:10.1136/jmedgenet-2020-106936

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Article

Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.

Journal of medical genetics - 1 Apr 2021

Shickh Salma, Gutierrez Salazar Mariana, Zakoor Kathleen-Rose, Lázaro Conxi, Gu Jessica, Goltz Jamie, Kleinman Dakota, Noor Abdul, Khalouei Sam, Mighton Chloe, Reble Emma, Kodida Rita, Bombard Yvonne, DiTroia Stephanie, Baxter Samantha, Watkins Nicholas, Care Melanie, Adler Arnon, Horsburgh Sheri, Morar Oana, Murphy Jillian, Nevay Dayna-Lynn, Szybowska Marta, Aronson Melyssa, Panchal Seema, Godoy Ruth, Holter Spring, Randall Armel Susan, Semotiuk Kara, Elser Christine, Kim Raymond H, Chitayat David, So Joyce, Faghfoury Hanna, Silver Josh, Morel Chantal F, Lerner-Ellis Jordan

Abstract excerpt

BACKGROUND: Exome and genome sequencing have been demonstrated to increase diagnostic yield in paediatric populations, improving treatment options and providing risk information for relatives. There are limited studies examining the clinical utility of these tests in adults, who currently have limited access to this technology. METHODS: Patients from adult and cancer genetics clinics across Toronto, Ontario,...

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Identifiers

PMID: 32581083
DOI: 10.1136/jmedgenet-2020-106936
PMCID: PMC8475751

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