Latest Episodes
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 - Exome sequencing identifies homozygous MDGA2 loss-of-function variants in nine individuals and functional neuronal...
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., Advancing regulatory variant effect prediction with AlphaGenome. Nature 649, 1206–1218 ( - AlphaGenome, a 1 Mb DNA deep‑learning model, predicts base‑pair‑resolution...
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., PNAS - MIPseq and exome sequencing of 11,555 human congenital heart disease probands implicate 60 dominant CHD genes, with NOTCH1...
00:19:55
Episode 274
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January 29, 2026
274: RPE-specific MCT2 gene delivery preserves cones and vision in rat and mouse models of retinitis pigmentosa
Chandler LC et al., PNAS - AAV-mediated RPE expression of MCT2 in rat and mouse retinitis pigmentosa models increases RPE lactate uptake and prolongs...
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., PNAS - In canine transmissible venereal tumor (CTVT), deep sequencing and cytogenetics identify a 15‑Mb horizontally transferred nuclear element (N-HT1)...
00:18:32
Episode 272
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January 27, 2026
272: ADSL A429V reduces purine biosynthesis in brain and alters female mouse water-seeking behavior
Ju X-C et al., PNAS - Human-specific ADSL A429V substitution and a common regulatory haplotype reduce ADSL activity and raise purine substrates in the...
00:22:11