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
6: TRMT1, tRNA m2,2G, and Intellectual Disability
Efthymiou S et al., The American Journal of Human Genetics - A global cohort study identifies bi-allelic TRMT1 variants that cause developmental delay and intellectual disability, links those variants...
17 Apr 202526min
5: Promoter Footprints Predicting Preterm Birth
Guo Z et al., PLOS Medicine - Large multi-center case-control study shows promoter-region nucleosome footprints in plasma cell-free DNA can predict spontaneous preterm birth. The authors developed PTe...
16 Apr 202514min
4: How CXCL12 Shapes Coronary Dominance
Rios Coronado PE et al., Cell - A multi-ancestry GWAS in >61,000 veterans identifies CXCL12 as a top locus influencing whether the right or left coronary tree supplies the posterior heart; fetal expre...
16 Apr 202517min
