2024
F67. CHARACTERIZING THE IMPACT OF AUTOZYGOSITY AND RUNS OF HOMOZYGOSITY ON PSYCHIATRIC DISEASE RISK IN INDIAN POPULATION
Kandasamy K, Ganesh S, Sachdeva P, Mahadevan J, Holla B, Benegal V, Purushottam M, Jain S, Viswanath B. F67. CHARACTERIZING THE IMPACT OF AUTOZYGOSITY AND RUNS OF HOMOZYGOSITY ON PSYCHIATRIC DISEASE RISK IN INDIAN POPULATION. European Neuropsychopharmacology 2024, 87: 242. DOI: 10.1016/j.euroneuro.2024.08.478.Peer-Reviewed Original ResearchGenetic architecture of psychiatric disordersIllumina Global Screening ArrayGlobal Screening ArrayContinental populationsGenetic architectureInbreeding coefficientRecessive locusAutozygosityFROHObsessive compulsive disorderScreening ArrayPLINK v.GenomeInbreedingBipolar disorderDisease-riskPsychiatric diagnosisPsychiatric disordersDisease riskEndogamyIlluminaCase-control differencesLociPLINKROH
2022
Whole exome sequencing in dense families suggests genetic pleiotropy amongst Mendelian and complex neuropsychiatric syndromes
Ganesh S, Vemula A, Bhattacharjee S, Mathew K, Ithal D, Navin K, Nadella R, Viswanath B, Sullivan P, Jain S, Purushottam M. Whole exome sequencing in dense families suggests genetic pleiotropy amongst Mendelian and complex neuropsychiatric syndromes. Scientific Reports 2022, 12: 21128. PMID: 36476812, PMCID: PMC9729597, DOI: 10.1038/s41598-022-25664-7.Peer-Reviewed Original ResearchConceptsSequence kernel association testKernel association testWhole-exome sequencing studiesExome sequencing studiesUnique genesGenetic architectureCase-control association analysisDeleterious variantsSequencing studiesWhole-exome sequencingMendelian syndromesAssociation analysisCriteria of rarityPleiotropic influenceGenesWES studyFunctional consequencesSignificant overrepresentationGenetic pleiotropyExome sequencingAffected individualsFamilyImportant insightsUnrelated controlsAssociation Test