Base by Base

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 relevance—one base at a time. Powered by AI, Base by Base offers a new way to learn on the go. Special thanks to authors who publish under CC BY 4.0, making open-access science faster to share and easier to explore.

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Episoder(444)

132: Transcriptome classifiers predict docetaxel sensitivity in advanced prostate cancer

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 immunohistochemistry to 14-year ...

9 Sep 202520min

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

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 plasmid that is highly prevalent and abundant acr...

8 Sep 202517min

130: Genetics + CRISPR to Map Obesity and Fat Distribution

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 Biobank participants with CRISPR knockdown in human ...

7 Sep 202520min

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

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 NPIP gene family on chromosome 16, revealing extreme ...

6 Sep 202522min

128: L1 elements, chromatin and CRISPRi

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 experiments using CRI...

5 Sep 202515min

127: OncoGAN: Generating Synthetic Cancer Genomes with AI

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 eight tumor types to support ...

4 Sep 202517min

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

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 organoids from individuals with del(17)p11.2 (Smith-Magenis ...

3 Sep 202520min

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

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 coordinated international effort to expand Parkin...

2 Sep 202522min

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