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Base by Base

Base by Base explores advances in genetics and genomics, with a focus on gene-disease associations, variant interpretation, protein structure, and insights from exome and genome sequencing. Each episode breaks down key studies and their clinical...more

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Latest Episodes

57: Low rates of genetic testing in Medicaid-enrolled children with ASD and ID

Episode 57

June 27, 2025

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...

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00:19:40

56: When the Immunoproteasome Turns Toxic: PSMB8, PFKFB3 and Ferroptosis in MS

Episode 56

June 26, 2025

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...

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00:16:01

55: Denisovan DNA from the >146,000-year-old Harbin cranium

Episode 55

June 25, 2025

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...

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00:14:34

54: Immune trajectories in COVID-19 among patients with end-stage kidney disease

Episode 54

June 24, 2025

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)...

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00:18:50

53: Weighing PRS: costs, benefits, and evidence

Episode 53

June 23, 2025

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...

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00:17:13

52: LIZS6 methods and measurements

Episode 52

June 22, 2025

52: LIZS6 methods and measurements

Keener R et al., Cell Genomics - A method-focused excerpt describing LIZS6-related experiments across multiple conditions (NoSk, LSFM) with quantitative readouts and protocol detail....

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00:16:43