FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3170710080> ?p ?o ?g. }

• W3170710080 abstract "Abstract More than a decade of genome-wide association studies (GWASs) have identified genetic risk variants that are significantly associated with complex traits. Emerging evidence suggests that the function of trait-associated variants likely acts in a tissue- or cell-type-specific fashion. Yet, it remains challenging to prioritize trait-relevant tissues or cell types to elucidate disease etiology. Here, we present EPIC (cEll tyPe enrIChment), a statistical framework that relates large-scale GWAS summary statistics to cell-type-specific gene expression measurements from single-cell RNA sequencing (scRNA-seq). We derive powerful gene-level test statistics for common and rare variants, separately and jointly, and adopt generalized least squares to prioritize trait-relevant cell types while accounting for the correlation structures both within and between genes. Using enrichment of loci associated with four lipid traits in the liver and enrichment of loci associated with three neurological disorders in the brain as ground truths, we show that EPIC outperforms existing methods. We apply our framework to multiple scRNA-seq datasets from different platforms and identify cell types underlying type 2 diabetes and schizophrenia. The enrichment is replicated using independent GWAS and scRNA-seq datasets and further validated using PubMed search and existing bulk case-control testing results." @default.
• W3170710080 created "2021-06-22" @default.
• W3170710080 creator A5005196775 @default.
• W3170710080 creator A5031308248 @default.
• W3170710080 creator A5054121121 @default.
• W3170710080 date "2021-06-10" @default.
• W3170710080 modified "2023-09-27" @default.
• W3170710080 title "EPIC: inferring relevant cell types for complex traits by integrating genome-wide association studies and single-cell RNA sequencing" @default.
• W3170710080 cites W1772398232 @default.
• W3170710080 cites W1844405070 @default.
• W3170710080 cites W1964198914 @default.
• W3170710080 cites W1981638497 @default.
• W3170710080 cites W1987278333 @default.
• W3170710080 cites W2040373108 @default.
• W3170710080 cites W2051314902 @default.
• W3170710080 cites W2059744149 @default.
• W3170710080 cites W2061292622 @default.
• W3170710080 cites W2062125287 @default.
• W3170710080 cites W2063619823 @default.
• W3170710080 cites W2072608915 @default.
• W3170710080 cites W2082704080 @default.
• W3170710080 cites W2095060637 @default.
• W3170710080 cites W2096791516 @default.
• W3170710080 cites W2099085143 @default.
• W3170710080 cites W2099529905 @default.
• W3170710080 cites W2101280135 @default.
• W3170710080 cites W2101357408 @default.
• W3170710080 cites W2113547573 @default.
• W3170710080 cites W2133465414 @default.
• W3170710080 cites W2146442376 @default.
• W3170710080 cites W2148642390 @default.
• W3170710080 cites W2153118028 @default.
• W3170710080 cites W2153860431 @default.
• W3170710080 cites W2158217645 @default.
• W3170710080 cites W2163953557 @default.
• W3170710080 cites W2222286313 @default.
• W3170710080 cites W2523369352 @default.
• W3170710080 cites W2523620612 @default.
• W3170710080 cites W2526546796 @default.
• W3170710080 cites W2561206810 @default.
• W3170710080 cites W2613208746 @default.
• W3170710080 cites W2745116209 @default.
• W3170710080 cites W2747841296 @default.
• W3170710080 cites W2759086237 @default.
• W3170710080 cites W2777388159 @default.
• W3170710080 cites W2794458614 @default.
• W3170710080 cites W2794521141 @default.
• W3170710080 cites W2894662039 @default.
• W3170710080 cites W2912864703 @default.
• W3170710080 cites W2949177718 @default.
• W3170710080 cites W2949465911 @default.
• W3170710080 cites W2949475756 @default.
• W3170710080 cites W2949529569 @default.
• W3170710080 cites W2950375827 @default.
• W3170710080 cites W2950541340 @default.
• W3170710080 cites W2951751247 @default.
• W3170710080 cites W2952027905 @default.
• W3170710080 cites W2952602120 @default.
• W3170710080 cites W2952673268 @default.
• W3170710080 cites W2953357410 @default.
• W3170710080 cites W2962979703 @default.
• W3170710080 cites W3000010184 @default.
• W3170710080 cites W3004350202 @default.
• W3170710080 cites W3017109086 @default.
• W3170710080 cites W3019747475 @default.
• W3170710080 cites W3042292144 @default.
• W3170710080 cites W3087646378 @default.
• W3170710080 cites W3087782589 @default.
• W3170710080 cites W3092604392 @default.
• W3170710080 cites W3099609308 @default.
• W3170710080 cites W3115584880 @default.
• W3170710080 cites W3131634425 @default.
• W3170710080 cites W3133859624 @default.
• W3170710080 cites W3138461147 @default.
• W3170710080 cites W4206495155 @default.
• W3170710080 doi "https://doi.org/10.1101/2021.06.09.447805" @default.
• W3170710080 hasPublicationYear "2021" @default.
• W3170710080 type Work @default.
• W3170710080 sameAs 3170710080 @default.
• W3170710080 citedByCount "2" @default.
• W3170710080 countsByYear W31707100802022 @default.
• W3170710080 countsByYear W31707100802023 @default.
• W3170710080 crossrefType "posted-content" @default.
• W3170710080 hasAuthorship W3170710080A5005196775 @default.
• W3170710080 hasAuthorship W3170710080A5031308248 @default.
• W3170710080 hasAuthorship W3170710080A5054121121 @default.
• W3170710080 hasBestOaLocation W31707100801 @default.
• W3170710080 hasConcept C104317684 @default.
• W3170710080 hasConcept C106208931 @default.
• W3170710080 hasConcept C106934330 @default.
• W3170710080 hasConcept C135763542 @default.
• W3170710080 hasConcept C1491633281 @default.
• W3170710080 hasConcept C153209595 @default.
• W3170710080 hasConcept C168393362 @default.
• W3170710080 hasConcept C186413461 @default.
• W3170710080 hasConcept C189014844 @default.
• W3170710080 hasConcept C199360897 @default.
• W3170710080 hasConcept C2779901538 @default.
• W3170710080 hasConcept C2993967602 @default.
• W3170710080 hasConcept C41008148 @default.

• next