2024
Copy-number variants differ in frequency across genetic ancestry groups
Schultz L, Knighton A, Huguet G, Saci Z, Jean-Louis M, Mollon J, Knowles E, Glahn D, Jacquemont S, Almasy L. Copy-number variants differ in frequency across genetic ancestry groups. Human Genetics And Genomics Advances 2024, 5: 100340. PMID: 39138864, PMCID: PMC11401192, DOI: 10.1016/j.xhgg.2024.100340.Peer-Reviewed Original ResearchCopy number variantsAncestry groupsDeleterious copy number variantsRecurrent copy number variantsNon-European ancestry groupsUK BiobankGenetic ancestry groupsGenetic ancestryEuropean ancestry groupsReplication cohortFamily cohortProbe associationsAncestryCopyVariantsHealth outcomesCognitive phenotypesCommunity populationAutism spectrum disorderPhenotypeCohort
2022
The construction of cross-population polygenic risk scores using transfer learning
Zhao Z, Fritsche L, Smith J, Mukherjee B, Lee S. The construction of cross-population polygenic risk scores using transfer learning. American Journal Of Human Genetics 2022, 109: 1998-2008. PMID: 36240765, PMCID: PMC9674947, DOI: 10.1016/j.ajhg.2022.09.010.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesPolygenic risk scoresAncestry groupsTransferability of PRSPRS-CSPolygenic risk score methodsEuropean ancestry cohortsIndividuals of African ancestryIndividuals of South Asian ancestryNon-European ancestry groupsNon-European ancestrySouth Asian ancestryAssociation studiesDichotomous traitsSouth Asian sampleEuropean ancestryGenetic researchPRS modelAncestryAsian ancestryAfrican ancestryAfrican samplesUK BiobankRisk scoreAsian samples
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