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

摘要: BACKGROUND: The Personal Genome Project Canada is a comprehensive public data resource that integrates whole genome sequencing and health information. We describe genomic variation identified in the initial recruitment cohort of 56 volunteers. METHODS: Volunteers were screened for eligibility provided informed consent open sharing. Using blood DNA, we performed all possible classes DNA variants. A genetic counsellor explained implication results to each participant. RESULTS: Whole first participants 207 662 805 sequence variants 27 494 copy number variations. analyzed prioritized disease-associated set (n = 1606 variants) according standardized guidelines, interpreted 19 14 (25%) as having obvious implications. Six these (e.g., BRCA1 or mosaic loss an X chromosome) pathogenic likely pathogenic. Seven risk factors cancer, cardiovascular neurobehavioural conditions. Four other — associated with cardiac neurodegenerative phenotypes remained uncertain significance because discrepancies among databases. also large structural chromosome aberration mitochondrial variant. There 172 recessive disease alleles 5 individuals carried mutations cystic fibrosis). Pharmacogenomics analyses revealed another 3.9 potentially relevant genotypes per individual. INTERPRETATION: Our spectrum potential impact 25% participants. When considering pharmacologic relevance, had medically findings. Although access mostly limited research, can provide specific novel information major care.