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 Kesä 26min
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 Touko 11min
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 Touko 26min
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 Touko 23min
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 Touko 26min
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 Touko 27min
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 Touko 22min
374: DNA-guided Cas12a reprogrammed to target RNA
Wu X et al., Nature Biotechnology - The authors engineer synthetic PAM-containing DNA guides (crDNA) that bind Cas12a to form a deoxyribonucleoprotein (DNP) complex that recognizes and cleaves complem...
22 Touko 20min
