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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

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

Episode 280

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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

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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

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

Episode 278

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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, Corrected proof. doi:10.1016/j.ajhg.2025.12.012 - US antitrust shifts in human genetic technologies: FTC scrutiny of...

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00:19:06

277: MDGA2 homozygous loss-of-function variants in developmental and epileptic encephalopathy

Episode 277

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February 01, 2026

277: MDGA2 homozygous loss-of-function variants in developmental and epileptic encephalopathy

Morsy H et al., The American Journal of Human Genetics, Corrected proof. doi:10.1016/j.ajhg.2025.12.015 - Exome sequencing identifies homozygous MDGA2 loss-of-function variants in nine individuals...

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00:18:27

276: AlphaGenome: 1-Mb multimodal deep model predicts regulatory variant effects including splicing and TAL1 mechanisms

Episode 276

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January 30, 2026

276: AlphaGenome: 1-Mb multimodal deep model predicts regulatory variant effects including splicing and TAL1 mechanisms

Avsec et al., Nature, doi:10.1038/s41586-025-10014-0 - AlphaGenome, a 1 Mb DNA deep‑learning model, predicts base‑pair‑resolution genome tracks (RNA‑seq, splicing, chromatin) and scores variant effects,...

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00:19:40

275: MIPseq/WES of 11,555 CHD probands implicates 60 dominant genes with NOTCH1 cysteine‑altering and transmitted MYH6 missense variants

Episode 275

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January 30, 2026

275: MIPseq/WES of 11,555 CHD probands implicates 60 dominant genes with NOTCH1 cysteine‑altering and transmitted MYH6 missense variants

Sierant MC et al., Proc. Natl. Acad. Sci. U.S.A. 2025.122:e2420343122 - MIPseq and exome sequencing of 11,555 human congenital heart disease probands implicate 60...

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00:19:55