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Base by Base

Base by Base explores advances in genetics and genomics, with a focus on gene-disease associations, variant interpretation, protein structure, and insights from exome and genome sequencing. Each episode breaks down key studies and their clinical...more

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Latest Episodes

14: Who Benefits from Large-Scale Genomic Programmes?

Episode 14

April 25, 2025

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,...

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00:25:44

13: Human de novo mutation rates from a four‑generation pedigree

Episode 13

April 25, 2025

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)...

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00:19:34

12: MUTYH's allosteric [4Fe-4S] network

Episode 12

April 19, 2025

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...

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00:16:28

11: Mitochondrial Weakness: Targeting Dnmt3a-Mutant Clonal Hematopoiesis

Episode 11

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...

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00:19:15

10: Assessing DNA variants for antisense oligonucleotide therapy

Episode 10

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...

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00:19:38

9: MrDAG and the causal architecture of mental health

Episode 9

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...

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00:20:34