RT Journal Article SR Electronic T1 The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants JF Canadian Medical Association Journal JO CMAJ FD Canadian Medical Association SP E126 OP E136 DO 10.1503/cmaj.171151 VO 190 IS 5 A1 Miriam S. Reuter A1 Susan Walker A1 Bhooma Thiruvahindrapuram A1 Joe Whitney A1 Iris Cohn A1 Neal Sondheimer A1 Ryan K.C. Yuen A1 Brett Trost A1 Tara A. Paton A1 Sergio L. Pereira A1 Jo-Anne Herbrick A1 Richard F. Wintle A1 Daniele Merico A1 Jennifer Howe A1 Jeffrey R. MacDonald A1 Chao Lu A1 Thomas Nalpathamkalam A1 Wilson W.L. Sung A1 Zhuozhi Wang A1 Rohan V. Patel A1 Giovanna Pellecchia A1 John Wei A1 Lisa J. Strug A1 Sherilyn Bell A1 Barbara Kellam A1 Melanie M. Mahtani A1 Anne S. Bassett A1 Yvonne Bombard A1 Rosanna Weksberg A1 Cheryl Shuman A1 Ronald D. Cohn A1 Dimitri J. Stavropoulos A1 Sarah Bowdin A1 Matthew R. Hildebrandt A1 Wei Wei A1 Asli Romm A1 Peter Pasceri A1 James Ellis A1 Peter Ray A1 M. Stephen Meyn A1 Nasim Monfared A1 S. Mohsen Hosseini A1 Ann M. Joseph-George A1 Fred W. Keeley A1 Ryan A. Cook A1 Marc Fiume A1 Hin C. Lee A1 Christian R. Marshall A1 Jill Davies A1 Allison Hazell A1 Janet A. Buchanan A1 Michael J. Szego A1 Stephen W. Scherer YR 2018 UL http://www.cmaj.ca/content/190/5/E126.abstract AB 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 interpreted 19 variants in 14 participants (25%) as having obvious health implications. Six of these variants (e.g., in BRCA1 or mosaic loss of an X chromosome) were pathogenic or likely pathogenic. Seven were risk factors for cancer, cardiovascular or neurobehavioural conditions. Four other variants — associated with cancer, cardiac or neurodegenerative phenotypes — remained of uncertain significance because of discrepancies among databases. We also identified a large structural chromosome aberration and a likely pathogenic mitochondrial variant. There were 172 recessive disease alleles (e.g., 5 individuals carried mutations for cystic fibrosis). Pharmacogenomics analyses revealed another 3.9 potentially relevant genotypes per individual.INTERPRETATION: Our analyses identified a spectrum of genetic variants with potential health impact in 25% of participants. When also considering recessive alleles and variants with potential pharmacologic relevance, all 56 participants had medically relevant findings. Although access is mostly limited to research, whole genome sequencing can provide specific and novel information with the potential of major impact for health care.See related article at www.cmaj.ca/lookup/doi/10.1503/cmaj.180076