Evidence map›Paper›PMID 42253900›Full record

ArticleGenetics in medicine open2026

Findings from comprehensive genome sequencing in the Canadian population: Results from the GENCOV Study.

Selina Casalino, Navneet Aujla, Erika Frangione, Radhika Mahajan, David Di Iorio, Chun Yiu Jordan Fung, Lochana Jayachandran, Georgia MacDonald, Gregory Morgan, Dawit Wolday and 36 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

46 authors.

Selina CasalinoMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Navneet AujlaMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Erika FrangioneMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Radhika MahajanMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
David Di IorioMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Chun Yiu Jordan FungMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Lochana JayachandranMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Georgia MacDonaldMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Gregory MorganMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Dawit WoldayMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Juliet YoungMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Saranya ArnoldoUniversity of Toronto, Toronto, ON, Canada.
Erin BearssMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Alexandra BinnieUniversity of Toronto, Toronto, ON, Canada.
Bjug BorgundvaagUniversity of Toronto, Toronto, ON, Canada.
Sunakshi ChowdharyUniversity Health Network, Toronto, ON, Canada.
Marc ClausenGenomics and Health Services Research Program, Unity Health Toronto, Toronto, ON, Canada.
Marc DagherUniversity of Toronto, Toronto, ON, Canada.
Luke DevineMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Brendan DicksonMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Steven Marc FriedmanUniversity of Toronto, Toronto, ON, Canada.
Anne-Claude GingrasMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Lee W GoneauDynacare Medical Laboratories, Brampton, ON, Canada.
Zeeshan KhanMackenzie Health, Richmond Hill, ON, Canada.
Elisa LapadulaMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Tony MazzulliMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Allison McGeerMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Shelley L McLeodUniversity of Toronto, Toronto, ON, Canada.
Chloe MightonMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Trevor J PughUniversity Health Network, Toronto, ON, Canada.
David RichardsonWilliam Osler Health System, Brampton, ON, Canada.
Stephen W SchererThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Jared SimpsonUniversity Health Network, Toronto, ON, Canada.
Seth SternMackenzie Health, Richmond Hill, ON, Canada.
Ahmed TaherUniversity of Toronto, Toronto, ON, Canada.
Lisa J StrugThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Yvonne BombardUniversity of Toronto, Toronto, ON, Canada.
Hanna FaghfouryMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Elena GreenfeldMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Limin HaoLaboratory for Molecular Medicine, Partners Personalized Medicine, Cambridge, MA.
Matthew LeboLaboratory for Molecular Medicine, Partners Personalized Medicine, Cambridge, MA.
William LaneHarvard Medical School and Brigham and Women's Hospital, Boston, MA.
Abdul NoorMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Jennifer TaherMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Jordan Lerner-EllisMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
HostSeq Implementation Committee

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

Comprehensive genome reportingGenome sequencingGenomic screeningOpportunistic screeningSecondary findings

Identifiers

PMID42253900
PMCPMC13235513

What OpenQuestion holds

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LicenceCC BY
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.