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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

129: NPIP — Structural variation, selection, and paralog diversification

Episode 129

September 06, 2025

129: NPIP — Structural variation, selection, and paralog diversification

Dishuck PC et al., Cell Genomics - Using 169 long-read human haplotypes and 1.4 billion full-length cDNA reads, Dishuck et al. resolve the complex...

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00:22:11

128: L1 elements, chromatin and CRISPRi

Episode 128

September 05, 2025

128: L1 elements, chromatin and CRISPRi

Adami A et al., Cell Genomics - This episode covers analyses of L1 retrotransposon subfamilies (L1PA2/3/4, L1HS), their chromatin signatures (including H3K4me3), and perturbation...

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00:15:26

127: OncoGAN: Generating Synthetic Cancer Genomes with AI

Episode 127

September 04, 2025

127: OncoGAN: Generating Synthetic Cancer Genomes with AI

Díaz-Navarro A et al., Cell Genomics - OncoGAN is a multimodel generative AI pipeline that simulates realistic, privacy-preserving cancer genomes (VCFs, CNAs, SVs) across...

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00:17:36

126: Smith-Magenis Syndrome: Chromatin Rewiring to Hyperexcitable Neurons

Episode 126

September 03, 2025

126: Smith-Magenis Syndrome: Chromatin Rewiring to Hyperexcitable Neurons

Lee Y et al., The American Journal of Human Genetics - This episode reviews a study using hiPSC-derived 2D cortical neurons and 3D cortical...

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00:20:59

125: GP2: A Global Roadmap for Parkinson’s Genetics

Episode 125

September 02, 2025

125: GP2: A Global Roadmap for Parkinson’s Genetics

Blauwendraat C et al., The American Journal of Human Genetics - This episode reviews a perspective on the Global Parkinson’s Genetics Program (GP2), a...

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00:22:46

124: Omnigenic Architecture and Core Genes in Ulcerative Colitis

Episode 124

September 01, 2025

124: Omnigenic Architecture and Core Genes in Ulcerative Colitis

Ratajczak F et al., The American Journal of Human Genetics - This study uses the Speos graph machine-learning framework on multi-modal molecular networks to...

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00:23:47