Latest Episodes
Episode 323
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March 22, 2026
323: Meat consumption and APOE ε3/ε4–ε4/ε4: slower cognitive decline and lower dementia risk in SNAC‑K
Norgren J et al., JAMA Network Open - Population-based SNAC-K study finds higher meat consumption associated with slower cognitive decline and lower dementia risk...
00:20:16
Episode 322
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March 22, 2026
322: Bi-allelic RNU6ATAC and RNU4ATAC variants cause infancy-onset autoimmune diabetes via minor spliceosome U12 intron retention
Johnson MB et al., The American Journal of Human Genetics - Bi-allelic variants in snRNAs RNU6ATAC and RNU4ATAC cause infancy-onset autoimmune diabetes in humans,...
00:22:50
Episode 321
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March 20, 2026
321: All five canonical nucleobases detected in Ryugu samples
Koga T et al., Nature Astronomy - Ryugu asteroid samples analyzed by HPLC/ESI-HRMS reveal all five canonical nucleobases (adenine, guanine, cytosine, thymine, uracil) and...
00:29:52
Episode 320
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March 19, 2026
320: Sex-stratified cQTL mapping identifies TOX (IFN-γ) and EGFR (IL-10) regulators in Dutch and Tanzanian cohorts
Amour C et al., Human Genetics and Genomics Advances, Journal Pre-proof - Sex-stratified cQTL mapping in Tanzanian and Dutch adults identifies sex-specific regulators such...
00:23:15
Episode 319
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March 18, 2026
319: Predicting reduced-penetrance TP53 variants from functional assays and random forest models
Fortuno C et al., Human Genetics and Genomics Advances - TP53 germline variant analysis using functional assays finds reduced-penetrance variants have intermediate activity, higher...
00:23:35
Episode 318
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March 18, 2026
318: RNU6ATAC variants cause U6atac-driven minor spliceopathy with transcriptome-wide minor intron retention
Mendez R et al., Human Genetics and Genomics Advances, Journal Pre-proof - Biallelic RNU6ATAC variants disrupt the U6atac minor spliceosomal snRNA, causing transcriptome-wide minor...
00:21:30