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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

461: Adult Ank3 loss quiets neurons and lowers a myelin protein

Episode 461

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September 24, 2026

461: Adult Ank3 loss quiets neurons and lowers a myelin protein

Yoon et al., Proceedings of the National Academy of Sciences - ANK3, which encodes the scaffolding protein ankyrin-G, is a major risk gene for...

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00:24:55

460: The lupus variant that also sharpens antiviral defense

Episode 460

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September 21, 2026

460: The lupus variant that also sharpens antiviral defense

Virolainen et al., The American Journal of Human Genetics - A lupus signal on chromosome 11p15 narrows to a coding haplotype in IRF7 that...

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00:24:13

459: Cerebral palsy genetics: 515 candidate genes, evidence for 89

Episode 459

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September 13, 2026

459: Cerebral palsy genetics: 515 candidate genes, evidence for 89

Arterbery et al., The American Journal of Human Genetics - Hundreds of genes have been reported as causes of cerebral palsy, yet there is...

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00:24:06

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

Episode 458

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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

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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

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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

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