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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

341: The Genetic Lottery and the Value of an Extra Year of School

Episode 341

April 13, 2026

341: The Genetic Lottery and the Value of an Extra Year of School

Widding-Havneraas T et al., PNAS - This study uses genetic variation related to educational attainment as a quasi-experimental instrument (Mendelian randomization) together with Norwegian...

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00:29:43

340: Microexon Control of Behavior — PTPRD Splicing

Episode 340

April 12, 2026

340: Microexon Control of Behavior — PTPRD Splicing

Imai A et al., Proceedings of the National Academy of Sciences (PNAS) - This paper shows that alternative splicing of a 12-nt microexon (meB)...

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00:17:01

339: cxt: A language model for population genetics

Episode 339

April 11, 2026

339: cxt: A language model for population genetics

Korfmann K et al., Proceedings of the National Academy of Sciences (PNAS) - This episode examines cxt, a decoder-only transformer that performs next-coalescence prediction...

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00:22:39

338: WDHD1 and Microcephalic Primordial Dwarfism

Episode 338

April 10, 2026

338: WDHD1 and Microcephalic Primordial Dwarfism

Tibbe D et al., The American Journal of Human Genetics - This study identifies bi-allelic hypomorphic WDHD1 variants in 17 subjects with a clinical...

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00:21:40

337: ND-CNVs and internalizing–cardiometabolic multimorbidity

Episode 337

April 08, 2026

337: ND-CNVs and internalizing–cardiometabolic multimorbidity

Katzourou IK et al., The American Journal of Human Genetics - Population analysis of ~459,000 UK Biobank participants shows that carriers of neurodevelopmental CNVs...

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00:22:39

336: Measuring disease likelihood in genomic ascertainment

Episode 336

April 07, 2026

336: Measuring disease likelihood in genomic ascertainment

Sapp JC et al., The American Journal of Human Genetics - A longitudinal study of recipients of medically actionable secondary genomic findings develops a...

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00:24:29