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 and...
1 Feb 18min
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 effect...
30 Jan 19min
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 dominant CHD genes, with NOTCH1 cyste...
30 Jan 19min
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 of the episode. Article title:RPE-specific MCT...
29 Jan 22min
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 horizontally transferred nuclear el...
28 Jan 18min
272: ADSL A429V reduces purine biosynthesis in brain and alters female mouse water-seeking behavior
Ju X-C et al., Proc. Natl. Acad. Sci. U.S.A. 2025.122:e2508540122 - Human-specific ADSL A429V substitution and a common regulatory haplotype reduce ADSL activity and raise purine substrates in the bra...
27 Jan 22min
271: Rising EA PGI prediction of educational attainment across 1946–1970 British birth cohorts and socioeconomic interaction
Morris TT et al., Proc. Natl. Acad. Sci. U.S.A. 2026.123:e2516460123 - EA and cognition polygenic indexes (PGIs) in three British birth cohorts show EA PGI associations with years of education increas...
25 Jan 19min
270: Human Topoisomerase IIIα–RMI1–RMI2 (TRR) processively relaxes negatively supercoiled DNA measured by optical tweezers
Spakmana D et al., Proc. Natl. Acad. Sci. U.S.A. 2026.123:e2406949123 - Optical tweezers and fluorescence imaging show human Topoisomerase IIIα–RMI1–RMI2 (TRR) processively relaxes highly negatively s...
25 Jan 22min
