Latest Episodes
Episode 11
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April 19, 2025
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...
00:19:15
Episode 10
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April 18, 2025
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...
00:19:38
Episode 9
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April 18, 2025
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...
00:20:34
Episode 8
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April 17, 2025
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...
00:24:51
Episode 7
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April 17, 2025
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...
00:19:10
Episode 6
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April 17, 2025
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...
00:26:15