Base by Base

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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Episoder(440)

438: Mapping AIRE: a proactive atlas of 9,790 missense variants

438: Mapping AIRE: a proactive atlas of 9,790 missense variants

Axakova A et al., The American Journal of Human Genetics - Axakova et al. generated a variant effect map for AIRE using an insulin‑promoter GFP reporter in HEK293 cells to measure the functional impac...

10 Aug 24min

437: Cell villages and Dirichlet modeling map human cell fitness genetics

437: Cell villages and Dirichlet modeling map human cell fitness genetics

Hanson C et al., The American Journal of Human Genetics - Hanson et al. combine pooled multi-donor human neural progenitor cell "villages" with Townlet, a hierarchical Dirichlet regression model, to e...

9 Aug 28min

436: KIAP4 and the ARND family: building the Leishmania adhesion plaque

436: KIAP4 and the ARND family: building the Leishmania adhesion plaque

Owino BO et al., PNAS - Using TurboID proximity proteomics and microscopy, researchers identify KIAP4 as the canonical member of a conserved Adhesion Related NTPase-like Domain (ARND) family that loca...

8 Aug 24min

435: E. coli TGT binds two tRNAs — cryo-EM reveals dual engagement

435: E. coli TGT binds two tRNAs — cryo-EM reveals dual engagement

Ember M et al., PNAS - This episode examines a cryo-EM study of Escherichia coli tRNA-guanine transglycosylase (TGT) that solves the enzyme structure and its covalent intermediate with tRNATyr. Unexpe...

7 Aug 19min

434: High‑coverage genomes recast Japan's prehistoric demography

434: High‑coverage genomes recast Japan's prehistoric demography

Ishiya K et al., PNAS - This episode examines a PNAS study that reports two high-coverage ancient human genomes from mainland Japan (an Initial Jomon >67× and a Middle Yayoi >46×). The genomes enable ...

6 Aug 27min

433: Lactate, HSP90α and the Mitochondrial Switch

433: Lactate, HSP90α and the Mitochondrial Switch

Wu G et al., Proceedings of the National Academy of Sciences - This episode examines a PNAS study that identifies site-specific lactylation of HSP90α as a metabolic signal linking glycolysis to mitoch...

23 Jul 23min

432: Echovirus 18: Capsid opening releases the genome

432: Echovirus 18: Capsid opening releases the genome

Mukhamedova L et al., Proceedings of the National Academy of Sciences - Using cryo-electron tomography and single-particle cryo-EM of infected Cos-7 cells, the authors show that echovirus 18 (E18) rel...

23 Jul 18min

431: KIAP4 and the ARND family: essential proteins for Leishmania–sand fly adhesion

431: KIAP4 and the ARND family: essential proteins for Leishmania–sand fly adhesion

Owino BO et al., Proceedings of the National Academy of Sciences - TurboID proximity labeling and proteomics identify KIAP4 as the canonical member of a conserved Adhesion Related NTPase-like Domain (...

23 Jul 21min

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