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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

63: Discovery vs. Dilution: How Sampling Breadth Shapes Rare Variant Discovery

Episode 63

July 02, 2025

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...

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00:23:10

62: When Origins Fail: Pre-RC Loss and PARP Inhibitor Resistance

Episode 62

July 01, 2025

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,...

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00:17:00

️ 61: Monkeypox on the Frontline — Developing Brazil’s First qPCR Diagnostic Assay

Episode 61

June 30, 2025

️ 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...

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00:22:43

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

Episode 60

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

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

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