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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

132: Transcriptome classifiers predict docetaxel sensitivity in advanced prostate cancer

Episode 132

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September 09, 2025

132: Transcriptome classifiers predict docetaxel sensitivity in advanced prostate cancer

Grist E et al., Cell - Large-scale transcriptome profiling of 1,523 diagnostic prostate tumors from randomized STAMPEDE phase 3 trials linked expression signatures and...

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00:20:35

131: Cryptic plasmid pBI143: a small element with outsized presence in the human gut

Episode 131

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September 08, 2025

131: Cryptic plasmid pBI143: a small element with outsized presence in the human gut

Fogarty EC et al., Cell (187:1206–1222, February 29, 2024) - This episode summarizes Fogarty et al. 2024, which characterizes pBI143, a 2.7 kb cryptic...

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00:17:59

130: Genetics + CRISPR to Map Obesity and Fat Distribution

Episode 130

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September 07, 2025

130: Genetics + CRISPR to Map Obesity and Fat Distribution

Baya NA et al., The American Journal of Human Genetics - This episode summarizes a multi-modal study that integrates exome sequencing in 402,375 UK...

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00:20:24

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

Episode 129

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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

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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

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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