Latest Episodes
Episode 143
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September 20, 2025
143: Modelling genetic 'outliers' in ancient Eurasia (S1E143)
Skourtanioti E et al., Cell - This episode summarizes a population‑genomic analysis that models genetic outliers in ancient Eurasian samples, using PCA and admixture...
00:18:56
Episode 142
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September 19, 2025
142: PALB2 ACMG/AMP Specifications
Richardson M et al., The American Journal of Human Genetics - An international HBOP Variant Curation Expert Panel developed PALB2-specific specifications of the 2015...
00:16:35
Episode 141
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September 18, 2025
141: RetiGene: a gene atlas for inherited retinal diseases
Rivolta C et al., The American Journal of Human Genetics - RetiGene is an expert‑curated, openly accessible atlas integrating variant data, bulk and single‑cell...
00:26:12
Episode 140
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September 17, 2025
140: SOD1 Variant Landscapes: Activity and Abundance Maps
Axakova A et al., The American Journal of Human Genetics - Axakova et al. produced comprehensive missense variant-effect maps for human SOD1 by assaying...
00:20:18
Episode 139
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September 16, 2025
139: MosCoverY: a coverage-based method to detect mosaic loss of Y
Timonina V et al., The American Journal of Human Genetics - MosCoverY is a coverage-based method that estimates mosaic loss of the Y chromosome...
00:14:03
Episode 138
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September 15, 2025
138: Social exposome and dementia in Latin America
Migeot J et al., Nature Communications - Large multicenter study linking a multidimensional social exposome (education, food insecurity, finances, healthcare access, childhood experiences) to...
00:19:43