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 frequency, later on...
18 Mar 23min
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 intron retention an...
18 Mar 21min
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 lung (LTRC) and blood (COPDGene...
16 Mar 21min
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 increased repl...
14 Mar 23min
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 selective sweep of phage-resistant strains....
12 Mar 23min
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 reanalysis to identify candidate diagnoses in ...
11 Mar 22min
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) and outlines best practices for integrating PRS and S...
10 Mar 24min
312: Mfsd2a transports LPC to maintain epidermal linoleate pools and desquamation
Wong BHH et al., Proc. Natl. Acad. Sci. U.S.A - Mouse and human studies show the LPC transporter Mfsd2a enables plasma-derived LPC uptake into keratinocytes, preserving linoleate-rich phosphatidylchol...
9 Mar 14min
