Related Experiment Video
Updated: Jun 9, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Findings from comprehensive genome sequencing in the Canadian population: Results from the GENCOV Study
Selina Casalino1,2, Navneet Aujla1,2, Erika Frangione1,2
1Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Purpose:
Opportunistic genome sequencing (GS) allows for the return of findings to clinical and research cohorts. We report on comprehensive GS results from the GENCOV study in Ontario, Canada.
Methods:
GS data were analyzed for clinically significant variants associated with monogenic disease and carrier status for autosomal recessive and X-linked conditions, pharmacogenomic variation, polygenic risk scores for common conditions, human leukocyte antigen and blood group genotypes, and genetic ancestry. GS results were summarized using descriptive statistics.
Results:
GS was completed on 1292 participants; 53% were female, 53% were 18 to 39 years old, and 816 (63%) were estimated to have European genetic ancestry. All (100%) had a variant associated with drug metabolism, 845 (65%) with increased polygenic risk scores, 735 (57%) with a risk-associated human leukocyte antigen genotype, and 857 (69%) and 91 (7%) with a rare red blood cell and/or platelet antigen, respectively. Of 851 who received reports, 261 (31%) had a variant associated with monogenic disease (178 or 21% were considered medically actionable) and 782 (92%) had at least one variant associated with carrier status.
Conclusion:
Opportunistic GS demonstrated that many individuals harbor GS findings impacting their health, illustrating the potential of GS to inform personalized and proactive health care for Canadians.
Related Concept Videos
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Genomics
Next-generation Sequencing
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Single Nucleotide Polymorphisms-SNPs
