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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

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 - GALS survey of >4,000 US respondents (GenPop and SPARK) shows confidence in...

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00:18:17

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

Episode 282

February 06, 2026

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

Liang Y et al., The American Journal of Human Genetics. 113 ( - TWAS using genetically predicted expression exhibit polygenicity-driven inflation that increases with...

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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. 113:324-341 ( - Analysis of 290 individuals with ACTB and ACTG1 variants defines...

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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 - In 569 TwinsUK subcutaneous adipose biopsies, twin models and GWAS identify...

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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 03, 2026

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

Guest, O et al., Zenodo (2025) - Position piece urging universities to resist uncritical adoption of AI technologies such as LLMs and chatbots because...

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00:20:15

278: Illumina, Grail and FTC scrutiny of vertical mergers in human genetic technologies

Episode 278

February 02, 2026

278: Illumina, Grail and FTC scrutiny of vertical mergers in human genetic technologies

Rashid AI et al., The American Journal of Human Genetics - US antitrust shifts in human genetic technologies: FTC scrutiny of Illumina’s acquisition of...

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00:19:06