{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ganesh S"],"funding":["The Institute of Stem Cells and Regenerative Medicine (InStem), Bengaluru, India","Brain and Behavior Research Foundation","DBT/Wellcome Trust India Alliance","Wellcome Trust","Pratiksha trust","Department of Biotechnology, Ministry of Science and Technology, India"],"pagination":["21128"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9729597"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["12(1)"],"pubmed_abstract":["Whole Exome Sequencing (WES) studies provide important insights into the genetic architecture of serious mental illness (SMI). Genes that are central to the shared biology of SMIs may be identified by WES in families with multiple affected individuals with diverse SMI (F-SMI). We performed WES in 220 individuals from 75 F-SMI families and 60 unrelated controls. Within pedigree prioritization employed criteria of rarity, functional consequence, and sharing by ≥ 3 affected members. Across the sample, gene and gene-set-wide case-control association analysis was performed with Sequence Kernel Association Test (SKAT). In 14/16 families with ≥ 3 sequenced affected individuals, we identified a total of 78 rare predicted deleterious variants in 78 unique genes shared by ≥ 3 members with SMI. Twent"],"journal":["Scientific reports"],"pubmed_title":["Whole exome sequencing in dense families suggests genetic pleiotropy amongst Mendelian and complex neuropsychiatric syndromes."],"pmcid":["PMC9729597"],"funding_grant_id":["BT/PR17316/MED/31/326/2015","27340","BT/01/CEIB/11/VI/11/2012","IA/CPHI/20/1/505266"],"pubmed_authors":["Shyamsundar A","Sivakumar PT","Gangadhar BN","Varghese M","Moirangthem S","Jayarajan D","Murthy P","Thirthalli J","Saini J","Viswanath B","Kesavan M","Ithal D","Narayanaswamy JC","Panicker MM","Navin K","Vemula A","Venkatasubramanian G","Ganesh S","Raghu P","Rao NP","Mathew K","Rao M","Sullivan PF","Bhattacharjee S","Binukumar B","Jain S","ADBS Consortium","Kandasamy A","Chattarji S","Kandavel T","Mehta UM","Mahadevan J","Nadella RK","Kannan R","Purushottam M","Holla B","Reddy JYC","Mukherjee O","Benegal V","Mehta B","Kumar KGV","John JP","Bhalla US","Chandra PS"],"additional_accession":[]},"is_claimable":false,"name":"Whole exome sequencing in dense families suggests genetic pleiotropy amongst Mendelian and complex neuropsychiatric syndromes.","description":"Whole Exome Sequencing (WES) studies provide important insights into the genetic architecture of serious mental illness (SMI). Genes that are central to the shared biology of SMIs may be identified by WES in families with multiple affected individuals with diverse SMI (F-SMI). We performed WES in 220 individuals from 75 F-SMI families and 60 unrelated controls. Within pedigree prioritization employed criteria of rarity, functional consequence, and sharing by ≥ 3 affected members. Across the sample, gene and gene-set-wide case-control association analysis was performed with Sequence Kernel Association Test (SKAT). In 14/16 families with ≥ 3 sequenced affected individuals, we identified a total of 78 rare predicted deleterious variants in 78 unique genes shared by ≥ 3 members with SMI. Twent","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Dec","modification":"2026-05-28T05:45:30.855Z","creation":"2025-04-04T13:28:10.883Z"},"accession":"S-EPMC9729597","cross_references":{"pubmed":["36476812"],"doi":["10.1038/s41598-022-25664-7"]}}