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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

141: RetiGene: a gene atlas for inherited retinal diseases

Episode 141

September 18, 2025

141: RetiGene: a gene atlas for inherited retinal diseases

Rivolta C et al., The American Journal of Human Genetics - RetiGene is an expert‑curated, openly accessible atlas integrating variant data, bulk and single‑cell...

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00:26:12

140: SOD1 Variant Landscapes: Activity and Abundance Maps

Episode 140

September 17, 2025

140: SOD1 Variant Landscapes: Activity and Abundance Maps

Axakova A et al., The American Journal of Human Genetics - Axakova et al. produced comprehensive missense variant-effect maps for human SOD1 by assaying...

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00:20:18

139: MosCoverY: a coverage-based method to detect mosaic loss of Y

Episode 139

September 16, 2025

139: MosCoverY: a coverage-based method to detect mosaic loss of Y

Timonina V et al., The American Journal of Human Genetics - MosCoverY is a coverage-based method that estimates mosaic loss of the Y chromosome...

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00:14:03

138: Social exposome and dementia in Latin America

Episode 138

September 15, 2025

138: Social exposome and dementia in Latin America

Migeot J et al., Nature Communications - Large multicenter study linking a multidimensional social exposome (education, food insecurity, finances, healthcare access, childhood experiences) to...

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00:19:43

137: Rethinking RNA-binding proteins: riboregulation beyond the classics

Episode 137

September 14, 2025

137: Rethinking RNA-binding proteins: riboregulation beyond the classics

Hentze MW et al., Cell - A review that examines the expansion of the RNA-binding proteome, evaluates evidence for many non-canonical RBPs, and highlights...

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00:25:11

136: Gene context drift and RECODR: predicting targets to prevent cancer relapse

Episode 136

September 13, 2025

136: Gene context drift and RECODR: predicting targets to prevent cancer relapse

Jassim A et al., Cancer Cell - This episode summarizes Jassim et al.'s introduction of RECODR, a graph-embedding pipeline that measures gene co-expression context...

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00:14:48