Semi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studies
Shyr D, Dey R, Li X, Zhou H, Boerwinkle E, Buyske S, Daly M, Gibbs R, Hall I, Matise T, Reeves C, Stitziel N, Zody M, Neale B, Lin X. Semi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studies. American Journal Of Human Genetics 2024, 111: 2129-2138. PMID: 39270648, PMCID: PMC11480788, DOI: 10.1016/j.ajhg.2024.08.018.Peer-Reviewed Original ResearchHardy-Weinberg equilibriumWhole-genome sequencing studiesWhole-genome sequencingHomogeneous ancestryWGS studiesDownstream analysisAssociation analysisPresence of population structureAncestry groupsGenetic ancestry groupsPopulation structureSequencing studiesSelf-reported raceGenetic researchQuality variantsAncestrySubsets of samplesProgram centersVariantsIncreasing diversityHeterogeneous sampleAncestralAssociationGeneticsSequenceWhole genome sequencing study of identical twins discordant for psychosis
Ormond C, Ryan N, Hedman A, Cannon T, Sullivan P, Gill M, Hultman C, Heron E, Johansson V, Corvin A. Whole genome sequencing study of identical twins discordant for psychosis. Translational Psychiatry 2024, 14: 313. PMID: 39080272, PMCID: PMC11289105, DOI: 10.1038/s41398-024-02982-0.Peer-Reviewed Original ResearchConceptsCopy number variantsSequencing studiesGenic copy number variantsWhole-genome sequencing studiesRare genic copy number variantsDeleterious missense variantsWhole-genome sequencingExome sequencing studiesGenome sequencing studiesMZ twinsPost-zygotic eventsPairs of MZ twinsGenome sequenceIdentical genomesDNA variantsMissense variantsOverlapped genesPsychotic phenotypesPsychotic disordersBipolar disorderRare variantsMZ twin studiesPhenotypic discordanceTwin studiesTwin pairs
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply