19: Promoters & UTRs: Diagnoses from the Near‑Coding Genome
Martin‑Geary AC et al et al., Genome Medicine - A systematic framework to prioritise promoter and UTR variants in 8040 undiagnosed trios from the Genomics England 100,000 Genomes Project, yielding ten...
14 Maj 202518min
18: UGGT1-CDG: Bi-allelic UGGT1 variants and a new congenital disorder of glycosylation
Dardas Z et al., The American Journal of Human Genetics - This episode reviews Dardas et al. (2025), which identifies bi-allelic UGGT1 variants in 15 affected individuals as the cause of a distinct co...
13 Maj 202525min
17: The structure of human sweetness
Juen Z et al., Cell - This episode examines a cryo-EM study that resolves the human sweet taste receptor (TAS1R2+TAS1R3) bound to two artificial sweeteners, revealing how a single receptor recognizes ...
13 Maj 202520min
16: Advancing equity in human genomics
Arruda AL et al., Cell Genomics - A commentary calling for generation of tissue-specific molecular data across diverse ancestries to improve fine-mapping, causal inference, and equitable translation o...
25 Apr 202515min
15: The genetic changes that shaped Neandertals, Denisovans, and modern humans
Zeberg H et al., Cell - A review of genetic differences among modern humans, Neandertals, and Denisovans, their functional consequences, and how introgression and lineage-specific changes shaped trait...
25 Apr 202520min
14: Who Benefits from Large-Scale Genomic Programmes?
Horn R et al., European Journal of Human Genetics - Workshop report assessing the practical benefits and limits of national genomic programmes across societal, economic, clinical, scientific and popul...
25 Apr 202525min
13: Human de novo mutation rates from a four‑generation pedigree
Nature - A telomere‑to‑telomere, multigenerational study that uses five sequencing technologies to assemble and phase near‑complete diploid genomes from a 28‑member family (CEPH 1463) to measure de no...
25 Apr 202519min
12: MUTYH's allosteric [4Fe-4S] network
Trasviña-Arenas CH et al., Nature Communications - This episode explores a 2025 study that reports the first human MUTYH structure bound to a transition state analog and functional profiling of cancer...
19 Apr 202516min
