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 Huhti 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 Huhti 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 Huhti 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 Huhti 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 Huhti 202516min
11: Mitochondrial Weakness: Targeting Dnmt3a-Mutant Clonal Hematopoiesis
Nature Communications (2025) 16:3306 et al., Nature Communications - This study shows that Dnmt3a-mutant hematopoietic stem and progenitor cells (HSPCs) sustain elevated mitochondrial membrane potenti...
19 Huhti 202519min
10: Assessing DNA variants for antisense oligonucleotide therapy
Cheerie D et al., The American Journal of Human Genetics - This episode summarizes the N1C VARIANT consensus guidelines (version 1.0) that define a framework to evaluate pathogenic DNA variants for el...
18 Huhti 202519min
9: MrDAG and the causal architecture of mental health
Zuber V et al., The American Journal of Human Genetics - Zuber et al. introduce MrDAG, a Bayesian causal graphical model that combines Mendelian randomization, structure learning, and interventional c...
18 Huhti 202520min
