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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

381: Light-written spatial barcodes enable tunable multiomic sequencing (BALI)

Episode 381

June 01, 2026

381: Light-written spatial barcodes enable tunable multiomic sequencing (BALI)

Battistoni G et al., PNAS - This paper presents BALI, a light-driven method that writes combinatorial DNA spatial barcodes directly onto biomolecules in tissue...

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00:26:00

380: Prime-SGE maps drug-resistance variants at scale

Episode 380

May 29, 2026

380: Prime-SGE maps drug-resistance variants at scale

Abadie FMC et al., Cell Genomics - Abadie et al. present prime‑SGE, a pooled prime‑editing framework that installs thousands of precise point mutations across...

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00:11:38

379: Long reads reveal hidden structural and repeat variation in autism

Episode 379

May 27, 2026

379: Long reads reveal hidden structural and repeat variation in autism

Mortazavi M et al., Cell Genomics - PaperCast Base by Base discusses a long-read whole-genome sequencing study of 267 individuals from 63 families that...

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00:26:30

378: Dominant-negative PSMB8 variants stall immunoproteasome assembly

Episode 378

May 26, 2026

378: Dominant-negative PSMB8 variants stall immunoproteasome assembly

Wijngaard R et al., The American Journal of Human Genetics - Researchers describe seven individuals with monoallelic PSMB8 missense variants that impair immunoproteasome assembly,...

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00:23:06

377: ProteomeLM — proteome-scale language modeling for interactomes and essential genes

Episode 377

May 26, 2026

377: ProteomeLM — proteome-scale language modeling for interactomes and essential genes

Malbranke C et al., Proceedings of the National Academy of Sciences (PNAS) - ProteomeLM is a transformer-based language model trained on complete proteomes that...

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00:26:09

376: Pfh1's Balancing Act: Unwinding, Rewinding, and the Role of Mitochondrial SSB

Episode 376

May 26, 2026

376: Pfh1's Balancing Act: Unwinding, Rewinding, and the Role of Mitochondrial SSB

Ortiz-Rodríguez M et al., Proceedings of the National Academy of Sciences (PNAS) - Single-molecule optical tweezers and fluorescence reveal how the S. pombe Pif1-family...

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00:27:53

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