Latest Episodes
Episode 403
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June 26, 2026
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...
00:22:51
Episode 402
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June 25, 2026
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...
00:20:26
Episode 401
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June 23, 2026
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...
00:24:28
Episode 400
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June 23, 2026
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...
00:22:30
Episode 399
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June 22, 2026
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...
00:21:44
Episode 398
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June 21, 2026
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...
00:24:52