Etiqueta: AmJHumGenet

Loss-of-function variants in EIF3A and EIF3B can lead to a variable multisystem congenital disorder, primarily involving cardiac anomalies, craniofacial differences, and mild neurodevelopmental features. These findings are supported by an international…

Singh et al. revealed and replicated an association between rs7906871 and stable warfarin dose in an African American population found through the addition of local ancestry inference. The variant was further associated with splicing changes within CYP…

By modeling correlations along the genome, we determined significance levels for a scan of excess identity-by-descent sharing that help avoid reporting false positive results. Some large signals observed in multiple different ancestry groups are unlike…

Mutations in VHL exon 2 associated with erythrocytosis or VHL disease affect both splicing and protein stability. This study uncovers regulatory splicing elements and implicates RNA-binding proteins hnRNPF and hnRNPAB in VHL exon 2 regulation, highligh…

To investigate the underlying mechanisms of complex traits, we performed an eQTL meta-analysis in skeletal muscle and identified 18,818 conditionally distinct signals for 12,283 genes. Colocalization with GWASs nominated 1,342 genes with potential dise…

Heterozygous de novo variants in the splicing factor SF1 cause a neurodevelopmental disorder with variable severity and autistic traits. Functional studies reveal that SF1 deficiency disrupts gene expression and splicing in neural progenitor cells, aff…

We cataloged 1,729 circulating metabolites from two metabolomics core laboratories among eight studies. We provided recommendations for TOPMed metabolite data harmonization and processing. We also provided pooled and sex-stratified metabolite-genetic s…

This study analyzes RNA-sequencing data by converting gene-expression profiles into images that encode gene-gene interactions. This image-based representation, processed through deep learning to extract genetic patterns, significantly improves the accu…

Human genetic variation influences susceptibility to infectious disease. Antibodies, stable biological markers of the response to infection, can be measured and leveraged to understand disease exposure, chronic infection state, and risk. Measured antib…

Methods aimed at deconvolving cell-type-specific estimates of bulk gene expression offer a cost-effective way to investigate cell-type-specific eQTLs. Our study suggests that such computational approaches to a large sample with blood-based bulk RNA-seq…