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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

367: Ancestral Splice Variation Fuels Cichlid Jaw Diversification

Episode 367

May 15, 2026

367: Ancestral Splice Variation Fuels Cichlid Jaw Diversification

Singh P et al., PNAS - This paper compares alternative splicing (AS) and gene expression (GE) across 200 transcriptomes from oral and pharyngeal jaws...

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00:22:53

366: BRCA1P1 suppresses antiviral and antitumor immunity

Episode 366

May 15, 2026

366: BRCA1P1 suppresses antiviral and antitumor immunity

Han YJ et al., Proceedings of the National Academy of Sciences (PNAS) - This episode examines a PNAS study showing that the BRCA1 pseudogene...

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00:24:15

365: MEN1 mutations and menin inhibitor resistance

Episode 365

May 15, 2026

365: MEN1 mutations and menin inhibitor resistance

Bourgeois et al., Nature Communications - This study used enhanced CRISPR base editor screens, structural biology, biochemical assays, and in vitro/in vivo selection to...

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00:22:06

364: Peripheral C4 and Schizophrenia: A Neutrophil Gene–Protein Link

Episode 364

May 11, 2026

364: Peripheral C4 and Schizophrenia: A Neutrophil Gene–Protein Link

Kalinowski A et al., PNAS - This study reports that C4 protein is enriched in human neutrophils and monocytes and that neutrophil C4 protein...

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00:17:38

363: cfDNA size deconvolution reveals a 159‑bp nucleosomal pivot and tumor fragmentomic signatures

Episode 363

May 09, 2026

363: cfDNA size deconvolution reveals a 159‑bp nucleosomal pivot and tumor fragmentomic signatures

Zhou Z et al., Nature Communications - This study develops a Lorentzian deconvolution model of cfDNA fragment length distributions across bodily fluids, identifies a...

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00:22:29

362: D614G Reshapes Spike Allostery and Speeds RBD Opening

Episode 362

May 09, 2026

362: D614G Reshapes Spike Allostery and Speeds RBD Opening

Kearns FL et al., PNAS - Simulations and HDXMS reveal how the D614G substitution alters internal communication in SARS-CoV-2 spike, enabling faster receptor-binding-domain opening...

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00:18:48