biostudies-literatureUnknownRamirez-Diaz AMNIMH NIH HHS<h4>Background</h4>The Populations Underrepresented in Mental illness Association Studies (PUMAS) project is attempting to remediate the historical underrepresentation of African and Latin American populations in psychiatric genetics through large-scale genetic association studies of individuals diagnosed with a serious mental illness [SMI, including schizophrenia (SCZ), schizoaffective disorder (SZA) bipolar disorder (BP), and severe major depressive disorder (MDD)] and matched controls. Given growing evidence indicating substantial symptomatic and genetic overlap between these diagnoses, we sought to enable transdiagnostic genetic analyses of PUMAS data by conducting phenotype alignment and harmonization for 89,320 participants (48,165 cases and 41,155 controls) from four cohorts, each omedRxiv : the preprint server for health sciences2024.10.02.24314732https://www.ebi.ac.uk/biostudies/studies/S-EPMC11537327biostudies-literaturePhenotype harmonization and analysis for The Populations Underrepresented in Mental illness Association Studies (the PUMAS Project).PMC11537327R01 MH120642U01 MH125045U01 MH125049R01 MH113078U01 MH125047Valencia-Echeverry JGelaye BBearden CEAtwoli LMwema RMMartin ARAyola-Serrano NCGadelha ADiniz MJAJames RReus VKariuki SMZiebold CLorencetti PGCastano-Ramirez MSharma SGeorgakopoulos PKyebuzibwa JOphoff RAWhiteman CAMountcastle Hde Souza Rodrigues ALPato CNOngeri LSantoro MLHolanda NAkena DNeale BMService SKBelangero SIWootton OIvankovic FZingela ZAsaaf SChapman SBDiaz-Zuluaga AMChibnik LBFreimer NGichuru SKoenen KCMcMahon JAlbuquerque STeferra SStroud REJha SCPalacio-Ortiz JDRamirez-Diaz AMBitta MLoohuis LOQuarantini LCLopez-Jaramillo CFreitas THMena LAlemayehu MBaker MKaur IStein DJPato MTVreeker ANewton CRJCfalsePhenotype harmonization and analysis for The Populations Underrepresented in Mental illness Association Studies (the PUMAS Project).<h4>Background</h4>The Populations Underrepresented in Mental illness Association Studies (PUMAS) project is attempting to remediate the historical underrepresentation of African and Latin American populations in psychiatric genetics through large-scale genetic association studies of individuals diagnosed with a serious mental illness [SMI, including schizophrenia (SCZ), schizoaffective disorder (SZA) bipolar disorder (BP), and severe major depressive disorder (MDD)] and matched controls. Given growing evidence indicating substantial symptomatic and genetic overlap between these diagnoses, we sought to enable transdiagnostic genetic analyses of PUMAS data by conducting phenotype alignment and harmonization for 89,320 participants (48,165 cases and 41,155 controls) from four cohorts, each o2024-01-01T00:00:00Z2024 Oct2025-04-04T02:35:22.149Z2025-04-04T02:35:22.149ZS-EPMC115373273950266910.1101/2024.10.02.24314732