60: Epi-PRS: Genomic LLMs and imputed epigenomics boost polygenic prediction
Zeng W et al., PNAS - This paper introduces Epi-PRS, a workflow that uses genomic large language models to impute cell-type-specific epigenomic features from diploid genotypes and trains nonlinear ris...
30 Juni 202517min
59: Optimizing Engagement in Cancer Genomics
Crossnohere NL et al., Genetics in Medicine - Overview of how the PE-CGS Network defined, implemented, and evaluated strategies to engage participants and communities in cancer genomic sequencing rese...
29 Juni 202522min
58: Cell competition shapes depletion of aneuploid cells
Fusari E et al., Cell Genomics - Fusari et al. use FLP/FRT–based mosaic methods in Drosophila imaginal epithelia to generate defined segmental monosomies and trisomies and quantify their immediate eff...
28 Juni 202522min
57: Low rates of genetic testing in Medicaid-enrolled children with ASD and ID
Brown TR et al., Genetics in Medicine - This episode reviews a claims-based study of 241,060 Medicaid-enrolled children (ages 7–17) from 2008–2016 that measured use of genetic testing among those with...
27 Juni 202519min
56: When the Immunoproteasome Turns Toxic: PSMB8, PFKFB3 and Ferroptosis in MS
Woo et al et al., Cell - This study shows that interferon-driven induction of the immunoproteasome subunit PSMB8 in neurons reduces proteasome β5 catalytic activity, causing accumulation of the glycol...
26 Juni 202516min
55: Denisovan DNA from the >146,000-year-old Harbin cranium
Fu Q et al., Cell - Recovery of mitochondrial DNA from dental calculus links the Late Middle Pleistocene Harbin cranium to Denisovans and demonstrates dental calculus as a source of ancient host DNA. ...
25 Juni 202514min
54: Immune trajectories in COVID-19 among patients with end-stage kidney disease
Stephenson E et al., Cell Genomics - Longitudinal single-cell multi-omics profiling of PBMCs from 61 end-stage kidney disease (ESKD) patients with COVID-19 (580,040 cells) reveals distinct temporal im...
24 Juni 202518min
53: Weighing PRS: costs, benefits, and evidence
Siena LM et al., The American Journal of Human Genetics - A systematic review of 24 full economic evaluations assessing polygenic risk score (PRS)–based clinical strategies across cancer, cardiovascul...
23 Juni 202517min
