The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

ABSTRACT: BACKGROUND:The Personal Genome Project Canada is a comprehensive public data resource that integrates whole genome sequencing data and health information. We describe genomic variation identified in the initial recruitment cohort of 56 volunteers. METHODS:Volunteers were screened for eligibility and provided informed consent for open data sharing. Using blood DNA, we performed whole genome sequencing and identified all possible classes of DNA variants. A genetic counsellor explained the implication of the results to each participant. RESULTS:Whole genome sequencing of the first 56 participants identified 207 662 805 sequence variants and 27 494 copy number variations. We analyzed a prioritized disease-associated data set (n = 1606 variants) according to standardized guidelines, and interpr

SUBMITTER: Reuter MS 

PROVIDER: S-EPMC5798982 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature