406: Temperature & Age Shape Gut Susceptibility to HCoV-229E
Synowiec A et al., Proceedings of the National Academy of Sciences (PNAS) - This episode examines a PNAS study using fetal, pediatric, and adult human intestinal enteroids to show that physiological t...
1 Heinä 19min
405: PRDM9 and the Hotspot Trade-off
Úbeda F et al., Proceedings of the National Academy of Sciences (PNAS) - A population-genetic model explains why sequence-specific PRDM9-guided recombination hotspots can evolve and persist alongside ...
1 Heinä 23min
404: RUNA Reveals Surface DNA on Exosomes
Bošković F et al., Proceedings of the National Academy of Sciences - This study introduces RUNA, a reversible chemistry that selectively labels uridine/thymidine to map nucleic acids across membranes,...
30 Kesä 21min
403: HRD-GIS Evidence for BRCA1/2 Variant Classification
Schnaiter et al et al., The American Journal of Human Genetics - Schnaiter et al. pooled Myriad MyChoice HRD+ CDx results from four cohorts (4,943 HGOC tumors) to test whether tumor HRD-related genomi...
26 Kesä 22min
402: When Polygenic Scores Miss: Rare Variants in Misaligned Individuals
Baya N et al., The American Journal of Human Genetics 113, 1–19 (2026) - Baya et al. applied a misalignment framework to UK Biobank polygenic scores and exomes and found that individuals whose observe...
25 Kesä 20min
401: LDB1 variants split neurodevelopmental outcomes by location and mechanism
Fluri R et al., The American Journal of Human Genetics - This episode examines a cohort study of 16 individuals with de novo LDB1 variants that reveals two overlapping but distinct neurodevelopmental ...
23 Kesä 24min
400: Complete chromosome 21 centromere sequencing and Down syndrome
Mastrorosa F et al., The American Journal of Human Genetics - Long-read assemblies and epigenetic mapping of chromosome 21 centromeres in families with trisomy 21 reveal centromere size diversity, two...
23 Kesä 22min
399: Ménière disease: inner ear development and retinoic acid pathways
Shi Z et al., The American Journal of Human Genetics - A large GWAS meta-analysis across five biobanks (8,969 cases, 1,962,542 controls) identifies five genome-wide significant loci for Ménière diseas...
22 Kesä 21min
