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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

60: Epi-PRS: Genomic LLMs and imputed epigenomics boost polygenic prediction

Episode 60

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June 30, 2025

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...

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00:17:41

59: Optimizing Engagement in Cancer Genomics

Episode 59

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June 29, 2025

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...

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00:22:55

58: Cell competition shapes depletion of aneuploid cells

Episode 58

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June 28, 2025

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...

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00:22:04

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

Episode 57

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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

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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

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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