Author

Yvonne Bombard

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Open access Sep 2026

The spectrum of copy number variation in the Pan-Canadian HostSeq databank

The integration of copy number variant (CNV) workflows into genome sequencing (GS) analysis pipelines allows for the identification of CNVs implicated in disease. Here, we generated a novel resource of CNVs identified in the HostSeq population cohort from Canada, identified the prevalence of recurrent CNVs associated w...

Navneet Aujla, B. Thiruvahindrapuram, S. Casalino et al. · PLoS ONE · 0 citations

Review Open access Sep 2026

Pilot Evaluation of a Digital Pretest Education Platform for Genomic Counseling: Perspectives of Health Care Providers and Patients

ABSTRACT Traditional in‐person consultations for genetic services create access barriers. We hypothesized that the Genetics Adviser platform—a web‐based digital platform delivering clinical genomic services—could reduce these barriers. Focusing on pretest education and counseling, we tested a pilot version of the platf...

Duha Hejla, Stéphanie Huynh, Hyunkook Lee et al. · Journal of Genetic Counselin... · 0 citations