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 Juni 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 Juni 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 Juni 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 Juni 21min
398: Modeling JAK2V617F Clonal Expansion in the General Population
Snyder J et al., Proceedings of the National Academy of Sciences (PNAS) - Longitudinal VAF measurements from 67 JAK2V617F-positive participants in the Danish GESUS study were analyzed with a Moran-pro...
21 Juni 24min
397: SciPhy: Bayesian phylogenetics for sequential genetic lineage tracing
Seidel et al., Nature Communications - SciPhy is a BEAST2-integrated Bayesian framework that models sequential CRISPR‑based insertion edits to jointly infer time-scaled single-cell lineage trees, edit...
20 Juni 23min
396: Physical homology recognition between DNA duplexes
Stannard A et al., Proceedings of the National Academy of Sciences (PNAS) - This episode summarizes a PNAS study that uses a FRET-responsive DNA tweezers nanosensor to detect and quantify sequence-dep...
18 Juni 23min
395: Extended sequence context shapes mutational bias in Escherichia coli
Green R et al., PNAS - Collating >100,000 base-pair substitutions from 32 mutation-accumulation experiments, this study shows that sequence context well beyond adjacent bases — up to ±6 bp and even hu...
18 Juni 22min
