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
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 Apr 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 Apr 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 Apr 202520min
8: A structural variation reference for medical and population genetics
Collins RL et al et al., Nature - This episode reviews gnomAD-SV, a sequence-resolved reference of structural variants from 14,891 genomes that catalogs 433,371 SVs (335,470 high-quality) and integrat...
17 Apr 202524min
7: Using high-resolution variant frequencies to empower clinical genome interpretation
Whiffin N et al., Genetics in Medicine - A statistical framework uses large reference allele-frequency data (ExAC) together with disease prevalence, heterogeneity, penetrance, and sampling variance to...
17 Apr 202519min
