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 Maj 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 Maj 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 Maj 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 Maj 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 Maj 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 Maj 20min
373: Base by Base 373 — A ciliate rewrites UAA and UAG
McGowan J et al., PLOS Genetics - Genome and transcriptome sequencing of an uncultured Oligohymenophorea ciliate (PL0344) reveals a novel nuclear genetic code in which UAA translates as lysine and UAG...
21 Maj 21min
372: Genes, IQ and Socioeconomic Outcomes in Emerging Adults
Kajonius PJ et al., Scientific Reports - This episode examines a twin-study analysis from the German TwinLife panel showing that cognitive ability at age 23 predicts socioeconomic status at age 27, an...
20 Maj 24min
