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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

42: Amino acids catalyse RNA formation under ambient alkaline conditions

Episode 42

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June 11, 2025

42: Amino acids catalyse RNA formation under ambient alkaline conditions

Rout SK et al., Nature Communications - A Nature Communications study shows that proteinogenic amino acids accelerate non-enzymatic RNA oligomerisation from ribonucleoside-2',3'-cyclic phosphates under...

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00:23:35

41: Valuing Genomic Newborn Screening: Australian Public Preferences

Episode 41

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June 10, 2025

41: Valuing Genomic Newborn Screening: Australian Public Preferences

Peters R et al., The American Journal of Human Genetics - This episode reviews a nationwide survey of 2,509 Australian adults using two discrete...

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00:18:43

40: Lysosomal SLC7A11 and acidification

Episode 40

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June 09, 2025

40: Lysosomal SLC7A11 and acidification

Provided PDF (truncated source text) et al., Cell - This episode reviews a study that examines SLC7A11 (7A11) localization to lysosomes and its impact...

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00:17:43

39: Scaling whole-genome polygenic scores with VIPRS

Episode 39

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June 07, 2025

39: Scaling whole-genome polygenic scores with VIPRS

Zabad S et al., The American Journal of Human Genetics - This episode covers Zabad et al.'s methods to scale summary-statistics-based polygenic risk score...

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00:19:15

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

Episode 38

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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

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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