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 relevance—one base at a time. Powered by AI, Base by Base offers a new way to learn on the go. Special thanks to authors who publish under CC BY 4.0, making open-access science faster to share and easier to explore.

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Jaksot(440)

366: BRCA1P1 suppresses antiviral and antitumor immunity

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 BRCA1P1 produces circular RNAs that suppress antiviral inna...

15 Touko 24min

365: MEN1 mutations and menin inhibitor resistance

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 map MEN1 mutations that drive r...

15 Touko 22min

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

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 levels correlate with C4A gene copy number specifically in ...

11 Touko 17min

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

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 ~159 bp component that demarcates ...

9 Touko 22min

362: D614G Reshapes Spike Allostery and Speeds RBD Opening

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 through newly engage...

9 Touko 18min

361: Chiral Inversion Mutagenesis Reveals Structured Hotspots in LCDs

361: Chiral Inversion Mutagenesis Reveals Structured Hotspots in LCDs

Beckner RL et al., PNAS - This episode examines a PNAS study using Chiral Inversion Mutagenesis (ChIM) to scan low-complexity domains (LCDs) of Emerin and neurofilament light chain (NEFL). Targeted L-...

8 Touko 24min

360: An inverse correlation between structural linguistic and human genetic diversity

360: An inverse correlation between structural linguistic and human genetic diversity

Graff A et al., PNAS - A PNAS study linking global population-genetic data and structural linguistic features finds an inverse correlation: regions with lower genetic diversity show higher structural ...

7 Touko 26min

359: Ultrapotent PDCoV Miniprotein MB11

359: Ultrapotent PDCoV Miniprotein MB11

Avery NG et al., PNAS - This episode covers a PNAS study reporting the de novo design of miniprotein inhibitors targeting porcine deltacoronavirus (PDCoV). The lead minibinder, MB11, binds the PDCoV R...

6 Touko 23min

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