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- W4387476683 abstract "We present initial genetic and phenotypic investigations of the Populations Underrepresented in Mental illness Association Studies (PUMAS) Project, an international collaboration of investigators from Brazil, Colombia, Ethiopia, Kenya, South Africa, Uganda, and the United States. As PUMAS, we are building a sample bank of severe mental illness (SMI) cases and controls from Africa and admixed populations from the Americas, to achieve a total sample of >180,000. Sequence data are being generated on 40,000 cases of schizophrenia, 40,000 cases of bipolar disorder and 40,000 matched population controls, and will be systematically analyzed in a combined dataset to discover the genetic basis of SMI across diverse ancestries and across the allele frequency spectrum. We will present initial results using the novel data genetic data generation strategy called Blended Genome Exome (BGE). BGE is a hybrid sequencing method, which captures both a deep whole-exome and a low pass genome in a single product, allowing for unbiased variant capture across ancestries, and at a price lower than current whole-exome sequencing products. To date, we have generated BGE sequence data of ∼9,000 participants, a number that is expected to increase to 50,000 subjects by October 2023. We will present analysis considerations, population genetic investigations and preliminary association results. We will also present our phenotype harmonization strategies across the different diagnostic instruments (MINI, Net-SCID, DI-PAD) and electronic health records that are part of PUMAS. We will provide descriptive statistics of relevant phenotypes, such as suicidality and psychosis phenotypes, collected and harmonized for >110,000 participants across diagnoses, cultures and countries." @default.
- W4387476683 created "2023-10-11" @default.
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- W4387476683 date "2023-10-01" @default.
- W4387476683 modified "2023-10-16" @default.
- W4387476683 title "INITIAL GENETIC AND PHENOTYPIC INVESTIGATIONS FROM THE POPULATIONS UNDERREPRESENTED IN MENTAL ILLNESS ASSOCIATION STUDIES (PUMAS) PROJECT" @default.
- W4387476683 doi "https://doi.org/10.1016/j.euroneuro.2023.08.039" @default.
- W4387476683 hasPublicationYear "2023" @default.
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