Latest Episodes
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
Episode 317
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March 16, 2026
317: COPD sQTL colocalization in lung and blood identifies FBXO38 and BTC splicing mechanisms
Saferali A et al., Human Genetics and Genomics Advances - Overlap between COPD genetic association results and transcriptional quantitative trait loci. RNA-seq in human...
00:21:10
Episode 316
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March 14, 2026
316: Inclusion bias in UCLA ATLAS: enrollment models, weighting, and effects on GWAS and PGS
Pimplaskar A et al., The American Journal of Human Genetics - In UCLA ATLAS EHR-linked biobank analyses, random forest-derived enrollment probabilities and inverse-probability weighting...
00:23:18
Episode 315
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March 12, 2026
315: PLE11-encoded Rta restricts ICP1 tail assembly in Vibrio cholerae outbreaks
Mathur Y et al., Nature - Clinical surveillance in Bangladesh shows Vibrio cholerae acquired PLE11 encoding Rta that restricts ICP1 tail assembly, driving a...
00:23:59
Episode 314
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March 11, 2026
314: Proactive Genomic Reanalysis at Boston Children’s: VS-NN, HPO NLP and DRAGEN find diagnoses in pediatric ES/GS
Rockowitz S et al., Human Genetics and Genomics Advances - Boston Children's Hospital used VS-NN, HPO NLP, and DRAGEN reprocessing in a proactive genomic...
00:22:41
Episode 313
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March 10, 2026
313: Integrating Polygenic Risk Scores and Social Determinants of Health across Populations
Cromer SJ et al., The American Journal of Human Genetics - This paper reviews polygenic risk scores (PRS) and social determinants of health (SDoH)...
00:24:46