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(462)

286: Deep mutational scanning of Nipah virus fusion protein F reveals functional and antigenic constraints

286: Deep mutational scanning of Nipah virus fusion protein F reveals functional and antigenic constraints

Larsen BB et al., Proc. Natl. Acad. Sci. U.S.A. 2026.123:e2529505123 - Deep mutational scanning of the Nipah virus fusion protein F using pseudoviruses maps ~8,500 single-residue effects, showing F is...

10 Helmi 19min

285: ESBX (Tb927.3.1660) integrates ESB RNA Pol I localization with BES activation and VSG repression in Trypanosoma brucei

285: ESBX (Tb927.3.1660) integrates ESB RNA Pol I localization with BES activation and VSG repression in Trypanosoma brucei

Berazategui MA et al., Proc. Natl. Acad. Sci. U.S.A. 2026.123:e2531377123 - ESBX (Tb927.3.1660) links RNA Pol I localization at the ESB to activation of the active BES and repression of inactive BESs ...

9 Helmi 19min

284: FES, VSMC behavior and pleiotropic vascular genes identified by integrative functional genomics

284: FES, VSMC behavior and pleiotropic vascular genes identified by integrative functional genomics

Solomon CU et al., Nat Commun(2026). - Integrative analysis in human VSMCs identifies pleiotropic genes including FES that regulate vascular remodeling; pooled CRISPR and mouse knockout show FES loss ...

8 Helmi 17min

283: Confidence in genetic knowledge drives Familiarity, Knowledge, and Skills in US GALS samples

283: Confidence in genetic knowledge drives Familiarity, Knowledge, and Skills in US GALS samples

Ramírez Renta GM et al., The American Journal of Human Genetics, 113 (2026) 16-28. doi:10.1016/j.ajhg.2025.11.014 - GALS survey of >4,000 US respondents (GenPop and SPARK) shows confidence in genetic ...

7 Helmi 18min

282: Gene-specific variance-control corrects polygenicity-driven inflation in TWAS

282: Gene-specific variance-control corrects polygenicity-driven inflation in TWAS

Liang Y et al., The American Journal of Human Genetics, 113 (2026) 276-290. doi:10.1016/j.ajhg.2025.12.014 - TWAS using genetically predicted expression exhibit polygenicity-driven inflation that incr...

6 Helmi 20min

281: Variant-level mapping of ACTB and ACTG1 defines eight non-muscle actinopathies and links BWCFF to actin polymerization defects

281: Variant-level mapping of ACTB and ACTG1 defines eight non-muscle actinopathies and links BWCFF to actin polymerization defects

Di Donato N et al., The American Journal of Human Genetics, 113 (2026) 324-341. doi:10.1016/j.ajhg.2025.12.007 - Analysis of 290 individuals with ACTB and ACTG1 variants defines eight distinct non-mus...

6 Helmi 20min

280: SCD, FADS and a 3p25.2 (PPARG) locus shape fatty acid composition in human subcutaneous adipose tissue

280: SCD, FADS and a 3p25.2 (PPARG) locus shape fatty acid composition in human subcutaneous adipose tissue

Yan X et al., The American Journal of Human Genetics, Corrected proof. doi:10.1016/j.ajhg.2025.12.008 - In 569 TwinsUK subcutaneous adipose biopsies, twin models and GWAS identify SCD, FADS and 3p25.2...

4 Helmi 17min

279: Against the Uncritical Adoption of AI in Universities: LLMs, Chatbots, and Academic Integrity (Guest et al.)

279: Against the Uncritical Adoption of AI in Universities: LLMs, Chatbots, and Academic Integrity (Guest et al.)

Guest O et al. - Position piece urging universities to resist uncritical adoption of AI technologies such as LLMs and chatbots because they undermine academic freedom, integrity, and pedagogical skill...

2 Helmi 20min

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