2024
DECIPHERING THE UNDERLYING BIOLOGY OF PSYCHIATRIC DISORDERS THROUGH LONGITUDINAL FAMILY COHORT BASED STUDIES IN INDIA
Viswanath B, Sud R, Ganesh S, Mahadevan J, Holla B, Paul P, Purushottam M, Jain S, Consortium A. DECIPHERING THE UNDERLYING BIOLOGY OF PSYCHIATRIC DISORDERS THROUGH LONGITUDINAL FAMILY COHORT BASED STUDIES IN INDIA. European Neuropsychopharmacology 2024, 87: 43-44. DOI: 10.1016/j.euroneuro.2024.08.108.Peer-Reviewed Original ResearchAdverse childhood eventsWhole-exome sequencingFirst-degree relativesChildhood eventsStudies of psychiatric disordersFamily history densityObsessive compulsive disorderGenetic studies of psychiatric disordersSubstance use disordersPeripheral blood mononuclear cellsSevere mental illnessLongitudinal family cohortGenetic studiesAge-of-onsetTransdiagnostic endophenotypesBrain imaging abnormalitiesCompulsive disorderBipolar disorderPsychiatric diagnosisPsychiatric disordersMultiple affected membersCognitive performanceRare damaging variantsMental illnessCognitive AssessmentW48. PROFILING THE RARE VARIANT GENETIC RISK FOR DEMENTIA WITH WHOLE EXOME SEQUENCING: A STUDY FROM INDIA
Patra C, Ganesh S, Mahadevan J, Gujarati K, Awasthy D, George S, Ganapathy A, Phalke S, Bettadapura R, Viswanath B, Varghese M, Jain S, Prasad P, Purushottam M. W48. PROFILING THE RARE VARIANT GENETIC RISK FOR DEMENTIA WITH WHOLE EXOME SEQUENCING: A STUDY FROM INDIA. European Neuropsychopharmacology 2024, 87: 126. DOI: 10.1016/j.euroneuro.2024.08.257.Peer-Reviewed Original ResearchVariants of Uncertain SignificanceClinical exome sequencingICD-10 diagnosis of dementiaExome sequencingFronto-temporal dementiaFamily historyMAPT geneExonic variantsAlzheimer's diseaseRare genetic risk variantsDiagnosis of dementiaRisk variantsAbnormal tau protein aggregationDiverse populationsPathogenic variantsICD-10 diagnosisRare variantsGenetic risk variantsExome data analysisAPOE e4 alleleTau protein aggregationRare exonic variantsNational Institute of Mental Health and NeurosciencesWhole-exome sequencingGeriatric clinic
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