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(440)

382: How animal blood cells evolved from unicellular ancestors

382: How animal blood cells evolved from unicellular ancestors

Nagahata Y et al., PNAS - A transcriptome-driven reconstruction of blood cell evolution shows modern animal blood lineages arose by repurposing an ancestral unicellular toolkit. The study traces macro...

2 Jun 26min

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

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 by iterative photocleavage and ligation,...

1 Jun 26min

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

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 multiple oncogenes and identifies drug‑re...

29 Mai 11min

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

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 increased detection of structural variants and t...

27 Mai 26min

378: Dominant-negative PSMB8 variants stall immunoproteasome assembly

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, causing early-onset ...

26 Mai 23min

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

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 produces contextualized protein embeddi...

26 Mai 26min

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

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 helicase Pfh1 alternates ATP-de...

26 Mai 27min

375: Biallelic DSCAM LoF: a syndromic NDD with nystagmus and cone-pathway retinal dysfunction

375: Biallelic DSCAM LoF: a syndromic NDD with nystagmus and cone-pathway retinal dysfunction

Douzgou Houge S et al., Human Genetics and Genomics Advances - This paper reports six individuals with biallelic loss-of-function DSCAM variants, delineating a recessive syndrome of moderate-to-severe...

26 Mai 22min

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