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(441)

289: MinION detection of chimeric reads in murine Ifna/Ifnb amplicons and ligation-related artifact prevalence

289: MinION detection of chimeric reads in murine Ifna/Ifnb amplicons and ligation-related artifact prevalence

White R et al., F1000Research - Investigation of chimeric reads in MinION nanopore sequencing of short PCR amplicons, focusing on ligation-related artifacts, barcode tracing, and the prevalence of cro...

13 Feb 16min

288: Cryo-EM of rat cerebellar α1/α6 GABAA receptors reveals PZ‑II‑029 binding and β-α-β-α-γ assemblies

288: Cryo-EM of rat cerebellar α1/α6 GABAA receptors reveals PZ‑II‑029 binding and β-α-β-α-γ assemblies

Sun C et al., Proc. Natl. Acad. Sci. U.S.A. 2026.123:e2524504123 - Using cryo-EM and mass spectrometry in rat cerebellum, α1- and α6-containing GABAA receptor assemblies (β‑α‑β‑α‑γ stoichiometry) and ...

12 Feb 16min

287: EPOP and MTF2 modulate PRC2 H3K27me3 deposition via GA- and GCN-sequence specificity

287: EPOP and MTF2 modulate PRC2 H3K27me3 deposition via GA- and GCN-sequence specificity

Granata J et al., Proc. Natl. Acad. Sci. U.S.A. 2026.123:e2527303123 - In mESCs and defined in vitro assays, EPOP and MTF2 stimulate PRC2 methyltransferase activity and promote de novo H3K27me3 deposi...

11 Feb 18min

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 Feb 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 Feb 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 Feb 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 Feb 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 Feb 20min

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