Latest Episodes
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...
00:19:06
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...
00:18:27
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,...
00:19:40
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...
00:19:55
Episode 274
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January 29, 2026
274: RPE MCT2: A metabolic gene-agnostic approach to preserve cones in RP
PNAS - RPE-specific MCT2 gene delivery preserves cones and vision in retinitis pigmentosa models Music:Enjoy the music based on this article at the end...
00:22:16
Episode 273
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January 28, 2026
273: CTVT-A acquires 15-Mb N-HT1 dicentric nuclear element via horizontal transfer
Gori K et al., Proc. Natl. Acad. Sci. U.S.A. 2025.122:e2424634122 - In canine transmissible venereal tumor (CTVT), deep sequencing and cytogenetics identify a 15‑Mb...
00:18:32