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 (2026) 324-341. doi:10.1016/j.ajhg.2025.12.007 - Analysis of 290 individuals with ACTB and ACTG1 variants defines eight distinct non-mus...
6 Helmi 20min
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 identify SCD, FADS and 3p25.2...
4 Helmi 17min
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 academic freedom, integrity, and pedagogical skill...
2 Helmi 20min
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 Illumina’s acquisition of...
2 Helmi 19min
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 Helmi 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 Tammi 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 Tammi 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 Tammi 22min
