Latest Episodes
Episode 379
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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...
00:26:30
Episode 378
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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,...
00:23:06
Episode 377
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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...
00:26:09
Episode 376
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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...
00:27:53
Episode 375
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May 26, 2026
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...
00:22:45
Episode 374
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May 22, 2026
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...
00:20:39