23: Returning Additional Findings in the 100,000 Genomes Project
Stafford-Smith B et al., Genetics in Medicine - Mixed-methods evaluation of how 100,000 Genomes Project participants experienced receiving positive additional findings (PAFs) for cancer or familial hy...
17 Mai 202514min
22: When RNases Hide the Message: Naked exRNA, Immune Sensing, and Translation
Castellano M et al., Cell Genomics - This study shows that extracellular ribonucleases mask the bioactivity of naked extracellular RNA (exRNA). When RNases are inhibited or absent, naked exRNA is inte...
16 Mai 202516min
21: Pooled prime editing maps functional human variants at scale
Herger M et al., Cell Genomics - Herger et al. present a pooled prime editing platform in haploid human cells that installs and assays thousands of short variants in their endogenous context. Using su...
16 Mai 202517min
20: dhps Mutations and SP Protection
Mousa A et al., Nature Communications - Pooled analysis of seven therapeutic efficacy trials (1639 participants, 12 African sites) quantifies how dhps resistance genotypes shorten the duration of prot...
16 Mai 202515min
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 Mai 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 Mai 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 Mai 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
