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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

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

Episode 284

February 08, 2026

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...

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00:17:41

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

Episode 283

February 07, 2026

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...

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00:18:17

Untitled Episode

Episode 282

February 06, 2026

Untitled Episode

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...

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00:20:00

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

Episode 281

February 06, 2026

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...

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00:20:37

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

Episode 280

February 04, 2026

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...

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00:17:04

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

Episode 279

February 02, 2026

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...

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00:20:15