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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

38: Bat ancestors, recombination, and rapid travel: origins of SARS-CoV and SARS-CoV-2

Episode 38

June 07, 2025

38: Bat ancestors, recombination, and rapid travel: origins of SARS-CoV and SARS-CoV-2

Pekar JE et al., Cell - Recombination-aware, whole-genome analyses of sarbecoviruses show that genomic fragments very closely related to SARS-CoV and SARS-CoV-2 circulated in...

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00:20:29

37: Prioritizing missense variants with chemoproteomic-detected amino acids

Episode 37

June 06, 2025

37: Prioritizing missense variants with chemoproteomic-detected amino acids

Palafox MF et al., The American Journal of Human Genetics - This episode explores a multi-omic study showing that mass spectrometry–based chemoproteomic detection of...

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00:23:07

36: Bi-allelic POPDC2 variants and a recessive cardiac syndrome

Episode 36

June 06, 2025

36: Bi-allelic POPDC2 variants and a recessive cardiac syndrome

Nicastro M et al., The American Journal of Human Genetics - This episode covers Nicastro et al. (2025), who identify bi-allelic POPDC2 variants in...

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00:18:31

35: Tracing CCR5Δ32 through ancient genomes

Episode 35

June 06, 2025

35: Tracing CCR5Δ32 through ancient genomes

This episode summarizes a study that genotyped the CCR5Δ32 deletion in ancient and modern human genomes, compared genotyping methods for low‑coverage ancient DNA, reconstructed...

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00:18:20

34: Pegtibatinase in Classical Homocystinuria (COMPOSE)

Episode 34

June 06, 2025

34: Pegtibatinase in Classical Homocystinuria (COMPOSE)

Ficicioglu C et al., Genetics in Medicine (2025) 27, 101456 - Phase 1/2 COMPOSE trial tested subcutaneous pegtibatinase in 24 participants with classical homocystinuria;...

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00:22:51

33: Targeting mis-splicing-derived neoantigens in splicing factor mutant leukemias

Episode 33

June 05, 2025

33: Targeting mis-splicing-derived neoantigens in splicing factor mutant leukemias

Kim WJ et al., Cell - This episode examines a study that identifies recurrent neoantigens produced by SRSF2 and ZRSR2 splicing factor mutations in...

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00:20:36