https://biorxiv.org This feed contains articles for bioRxiv Channel "Breakthrough Discoveries for Thriving with Bipolar Disorder" bioRxiv https://biorxiv.org https://biorxiv.org/cgi/content/short/2024.09.06.611689v1?rss=1" 53,000 samples from the Populations Underrepresented in Mental Illness Associations Studies (PUMAS) Project, which included participants across African, African American, and Latin American populations. We evaluated the accuracy of BGE imputed genotypes against raw genotype calls from the Illumina Global Screening Array. All PUMAS cohorts had R2 concordance [≥]95% among SNPs with MAF[≥]1%, and never fell below [≥]90% R2 for SNPs with MAF<1%. Furthermore, concordance rates among local ancestries within two recently admixed cohorts were consistent among SNPs with MAF[≥]1%, with only minor deviations in SNPs with MAF<1%. We also benchmarked the discovery capacity of BGE to access protein-coding copy number variants (CNVs) against deep whole genome data, finding that deletions and duplications spanning at least 3 exons had a positive predicted value of [~]90%. Our results demonstrate BGE scalability and efficacy in capturing SNPs, indels, and CNVs in the human genome at 28% of the cost of deep whole-genome sequencing. BGE is poised to enhance access to genomic testing and empower genomic discoveries, particularly in underrepresented populations. ]]> Boltz, T. A. Chu, B. B. Liao, C. Sealock, J. M. Ye, R. Majara, L. Fu, J. M. Service, S. Zhan, L. Medland, S. E. Chapman, S. B. Rubinacci, S. DeFelice, M. Grimsby, J. L. Abebe, T. Alemayehu, M. Ashaba, F. K. Atkinson, E. G. Bigdeli, T. Bradway, A. B. Brand, H. Chibnik, L. B. Fekadu, A. Gatzen, M. Gelaye, B. Gichuru, S. Gildea, M. L. Hill, T. C. Huang, H. Hubbard, K. M. Injera, W. E. James, R. Joloba, M. Kachulis, C. Kalmbach, P. R. Kamulegeya, R. Kigen, G. Kim, S. Koen, N. Kwobah, E. K. Kyebuzibwa, J. Lee, S. Lennon, N. J. Lind, P. A. Lopera-Maya, E. 2024-09-09 doi:10.1101/2024.09.06.611689 Cold Spring Harbor Laboratory Press 2024-09-09 https://biorxiv.org/cgi/content/short/2025.04.01.646642v1?rss=1" Meyer, K. Woodworth, M. Goncalves, M. C. B. Yue, M. AlJandal, H. Morton, S. Lewandowski, M. Liu, N. Zigon, E. Fortuna, P. Garcia-Corral, M. Budnik, B. Church, G. M. Tam, J. M. 2025-04-01 doi:10.1101/2025.04.01.646642 Cold Spring Harbor Laboratory Press 2025-04-01 https://biorxiv.org/cgi/content/short/2024.08.23.609190v1?rss=1" Fernandez Garcia, M. Retallick-Townsley, K. Pruitt, A. Davidson, E. Dai, Y. Fitzpatrick, S. E. Sen, A. Cohen, S. Livoti, O. Khan, S. Dossou, G. Cheung, J. Deans, P. J. M. Wang, Z. Huckins, L. Hoffman, E. Brennand, K. 2024-08-24 doi:10.1101/2024.08.23.609190 Cold Spring Harbor Laboratory Press 2024-08-24