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, with RNA-seq showing U12 intron reten...
22 Mar 22min
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 distribution linked to ammoni...
20 Mar 29min
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 as TOX-linked IFN-γ in males...
19 Mar 23min
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
