Meghana S. Pagadala

1 month ago | nature.com | Meghana S. Pagadala |Tori Anglin-Foote |Nai-Chung Chang |Kyung Lee |Tyler M Seibert |Julie Lynch | +1 more

AbstractGiven the various roles of testosterone in men’s health, we conducted a multi-ancestral genetic analysis of total testosterone, free testosterone, SHBG, and hypogonadism in men within the Million Veteran Program (MVP). Here we identified 157 significant testosterone genetic variants, of which 8 have significant ancestry-specific associations. These variants implicate several genes, including SERPINF2, PRPF8, BAIAP2L1, SHBG, PRMT6, and PPIF, related to liver function.

Nov 9, 2023 | nature.com | Meghana S. Pagadala |Jon Larson |L. T. Hung |Nicole G. Coufal |Howard Chang |Jesse R. Dixon | +8 more

AbstractCircular extrachromosomal DNA (ecDNA) in patient tumors is an important driver of oncogenic gene expression, evolution of drug resistance and poor patient outcomes. Applying computational methods for the detection and reconstruction of ecDNA across a retrospective cohort of 481 medulloblastoma tumors from 465 patients, we identify circular ecDNA in 82 patients (18%).