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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

27: ENVLPE+: Shuttling VLPs that load functional CRISPR RNPs

Episode 27

May 21, 2025

27: ENVLPE+: Shuttling VLPs that load functional CRISPR RNPs

Geilenkeuser J et al., Cell - A Cell paper describing ENVLPE/ENVLPE+, virus-like particles engineered with nucleocytosolic-shuttling Gag-PCP to recruit aptamer-tagged (pe)gRNAs and preferentially package...

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00:16:20

26: Reannotation reveals functional non-coding mutations in melanoma

Episode 26

May 20, 2025

26: Reannotation reveals functional non-coding mutations in melanoma

Pepe D et al., The American Journal of Human Genetics (112:1–21, June 5, 2025) - Pepe et al. show that annotating cancer mutations to...

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00:15:49

25: mtDNA discovery in Solve‑RD: phenotype‑driven reanalysis

Episode 25

May 19, 2025

25: mtDNA discovery in Solve‑RD: phenotype‑driven reanalysis

Ratnaike et al et al., The American Journal of Human Genetics - A semi-automated mtDNA reanalysis pipeline using MToolBox and MitoPhen HPO-based phenotype similarity...

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00:16:21

24: X chromosome and dosage-compensation in complex traits

Episode 24

May 18, 2025

24: X chromosome and dosage-compensation in complex traits

Fu Y et al., The American Journal of Human Genetics - Fu et al. (2025) analyze large biobank datasets to quantify how the X...

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00:14:53

23: Returning Additional Findings in the 100,000 Genomes Project

Episode 23

May 17, 2025

23: Returning Additional Findings in the 100,000 Genomes Project

Stafford-Smith B et al., Genetics in Medicine - Mixed-methods evaluation of how 100,000 Genomes Project participants experienced receiving positive additional findings (PAFs) for cancer...

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00:14:12

22: When RNases Hide the Message: Naked exRNA, Immune Sensing, and Translation

Episode 22

May 16, 2025

22: When RNases Hide the Message: Naked exRNA, Immune Sensing, and Translation

Castellano M et al., Cell Genomics - This study shows that extracellular ribonucleases mask the bioactivity of naked extracellular RNA (exRNA). When RNases are...

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00:16:24