303: Short-read sequencing and genome skimming for biodiversity monitoring and phylogenomics
Bleidorn C et al., Trends in Genetics, 42 (2026) 137-149. doi:10.1016/j.tig.2025.09.001 - This review shows how short-read shotgun sequencing and genome skimming recover organellar genomes, estimate g...
28 Helmi 29min
302 auf Deutsch: SMN1/SMN2-Spleißen und Mechanismen im letzten Exon — Hommage an Brunhilde Wirth
Ein Hommage-Dossier, das die wissenschaftliche Laufbahn von Prof. Brunhilde Wirth würdigt und Arbeiten zum alternativen Spleißen von SMN1/SMN2 hervorhebt. Im Fokus stehen Studien aus der molekularen G...
27 Helmi 13min
302: SMN1/SMN2 splicing and last-exon mechanisms — Tribute to Brunhilde Wirth
The Last Exon Light: A Tribute Dossier Celebrating the Scientific Career of Prof. Dr. Brunhilde Wirth - Special tribute episode honoring Prof. Dr. Brunhilde Wirth and synthesizing recurring themes acr...
26 Helmi 24min
301: Biobank Mendelian randomization prioritizes 6,447 genes and nominates ANXA2 for dyslipidemia
Ferolito BR et al., Human Genetics and Genomics Advances, 7 (2026) 100556. doi:10.1016/j.xhgg.2025.100556 - Meta-analysis of MVP, UK Biobank and FinnGen with Mendelian randomization using eQTL/pQTL in...
25 Helmi 20min
300: Population-scale WGS links MHC class II antigen presentation to persistent Epstein–Barr virus (EBV) DNA
Nyeo SS et al., Nature, doi:10.1038/s41586-025-10020-2 - Population-scale WGS reanalysis quantifies persistent EBV DNA and shows MHC class II–mediated antigen presentation predicts EBV DNAemia and lin...
24 Helmi 21min
299: UFM1 loss and R81C mutation disrupt neuronal translation, ER stress, and synaptogenesis
Perdigão C et al., EMBO Molecular Medicine, doi:10.1038/s44321-026-00389-6 - In mouse neurons, UFM1 loss or UFM1-R81C expression reduces protein translation, triggers ER stress and PERK activation, im...
24 Helmi 21min
298: Bi-allelic FSD1L variants in retinitis pigmentosa implicate photoreceptor axoneme
Lin S et al., The American Journal of Human Genetics, Corrected proof. doi:10.1016/j.ajhg.2026.01.015 - Bi-allelic FSD1L variants cause retinitis pigmentosa; FSD1L localizes to the photoreceptor axone...
24 Helmi 20min
297: Bi-allelic FSD1L variants disrupt mitotic spindle and ciliogenesis in an L1-like neurodevelopmental disorder
Serpieri V et al., The American Journal of Human Genetics, Corrected proof. doi:10.1016/j.ajhg.2026.01.014 - Bi-allelic FSD1L variants disrupt a microtubule-associated protein, causing hydrocephalus, ...
24 Helmi 21min
