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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

458: Somatic or inherited? Reading TP53 risk from shared DNA

Episode 458

September 10, 2026

458: Somatic or inherited? Reading TP53 risk from shared DNA

MacGregor et al., The American Journal of Human Genetics - Pathogenic TP53 variants found in blood have long been read as inherited Li-Fraumeni alleles,...

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00:25:09

457: A deletion that raises Alzheimer risk, a duplication that lowers it

Episode 457

September 09, 2026

457: A deletion that raises Alzheimer risk, a duplication that lowers it

Quenez O et al., The American Journal of Human Genetics - Rare copy-number variants were called from 22,319 exomes covering early-onset Alzheimer disease, late-onset...

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00:24:15

456: Beyond exons: where heritability hides as traits get more polygenic

Episode 456

September 08, 2026

456: Beyond exons: where heritability hides as traits get more polygenic

Fuhrer J et al., The American Journal of Human Genetics - Across 34 complex traits and disorders, a MiXeR-based framework partitions SNP heritability over...

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00:45:46

455: Agentic genomics: the bottleneck moves from code to judgment

Episode 455

September 07, 2026

455: Agentic genomics: the bottleneck moves from code to judgment

Corpas M et al., Cell Genomics - A Perspective arguing that autonomous AI agents which discover, configure and chain bioinformatics operations from natural-language instructions...

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00:13:44

454: Efavirenz retarda a doença priônica mexendo no colesterol do cérebro [PT]

Episode 454

September 02, 2026

454: Efavirenz retarda a doença priônica mexendo no colesterol do cérebro [PT]

Ali T et al., JCI Insight - Um antirretroviral aprovado para HIV, dado por via oral em microdose, prolongou a sobrevida de camundongos que...

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00:17:13

453: Efavirenz slows sCJD progression by reshaping brain cholesterol

Episode 453

August 31, 2026

453: Efavirenz slows sCJD progression by reshaping brain cholesterol

Ali T et al., JCI Insight - Repurposed low-dose efavirenz slowed disease progression and extended survival in tg650 mice inoculated with MM1 sCJD prions...

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00:20:56

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