63: Discovery vs. Dilution: How Sampling Breadth Shapes Rare Variant Discovery
Steiner MC et al., PNAS - This episode examines a theoretical and empirical study showing how the geographic breadth of sampling affects discovery and observed frequencies of deleterious rare variants...
2 Juli 202523min
62: When Origins Fail: Pre-RC Loss and PARP Inhibitor Resistance
Pappas K et al., PNAS - A genome-wide CRISPR screen in Brca2‑deficient murine prostate organoids identifies loss-of-function in DNA prereplication complex genes (CDT1, CDC6, DBF4) as a reversion‑indep...
1 Juli 202517min
️ 61: Monkeypox on the Frontline — Developing Brazil’s First qPCR Diagnostic Assay
️ Episode 61: Monkeypox on the Frontline — Developing Brazil’s First qPCR Diagnostic Assay In this episode of Base by Base, we trace the rapid development and rigorous validation of the first laborato...
30 Juni 202522min
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
