FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4386769981> ?p ?o ?g. }

• W4386769981 abstract "Abstract Alcohol use disorder (AUD) is moderately heritable with significant social and economic impact. Genome-wide association studies (GWAS) have identified common variants associated with AUD, however, rare variant investigations have yet to achieve well-powered sample sizes. In this study, we conducted an interval-based exome-wide analysis of the Alcohol Use Disorder Identification Test Problems subscale (AUDIT-P) using both machine learning (ML) predicted risk and empirical functional weights. This research has been conducted using the UK Biobank Resource (application number 30782.) Filtering the 200k exome release to unrelated individuals of European ancestry resulted in a sample of 147,386 individuals with 51,357 observed and 96,029 unmeasured but predicted AUDIT-P for exome analysis. Sequence Kernel Association Test (SKAT/SKAT-O) was used for rare variant (Minor Allele Frequency (MAF) < 0.01) interval analyses using default and empirical weights. Empirical weights were constructed using annotations found significant by stratified LD Score Regression analysis of predicted AUDIT-P GWAS, providing prior functional weights specific to AUDIT-P. Using only samples with observed AUDIT-P yielded no significantly associated intervals. In contrast, ADH1C and THRA gene intervals were significant (False discovery rate (FDR) <0.05) using default and empirical weights in the predicted AUDIT-P sample, with the most significant association found using predicted AUDIT-P and empirical weights in the ADH1C gene (SKAT-O P Default = 1.06 x 10 -9 and P Empirical weight = 6.25 x 10 -11 ). These findings provide evidence for rare variant association of the ADH1C gene with the AUDIT-P and highlight the successful leveraging of ML to increase effective sample size and prior empirical functional weights based on common variant GWAS data to refine and increase the statistical significance in underpowered phenotypes." @default.
• W4386769981 created "2023-09-16" @default.
• W4386769981 creator A5006085107 @default.
• W4386769981 creator A5007117276 @default.
• W4386769981 creator A5011961838 @default.
• W4386769981 creator A5018746391 @default.
• W4386769981 creator A5028511728 @default.
• W4386769981 creator A5051874516 @default.
• W4386769981 creator A5052840716 @default.
• W4386769981 creator A5076406057 @default.
• W4386769981 creator A5084389967 @default.
• W4386769981 date "2023-09-15" @default.
• W4386769981 modified "2023-10-14" @default.
• W4386769981 title "Improving the discovery of rare variants associated with alcohol problems by leveraging machine learning phenotype prediction and functional information." @default.
• W4386769981 cites W1984777071 @default.
• W4386769981 cites W2008047653 @default.
• W4386769981 cites W2015845481 @default.
• W4386769981 cites W2020427316 @default.
• W4386769981 cites W2023962370 @default.
• W4386769981 cites W2076401526 @default.
• W4386769981 cites W2082704080 @default.
• W4386769981 cites W2087936498 @default.
• W4386769981 cites W2097804771 @default.
• W4386769981 cites W2104549677 @default.
• W4386769981 cites W2147425235 @default.
• W4386769981 cites W2149813409 @default.
• W4386769981 cites W2151413924 @default.
• W4386769981 cites W2152325859 @default.
• W4386769981 cites W2153860431 @default.
• W4386769981 cites W2154335522 @default.
• W4386769981 cites W2159417227 @default.
• W4386769981 cites W2166059093 @default.
• W4386769981 cites W2256016639 @default.
• W4386769981 cites W2529241974 @default.
• W4386769981 cites W2725988230 @default.
• W4386769981 cites W2766877711 @default.
• W4386769981 cites W2791854743 @default.
• W4386769981 cites W2800388724 @default.
• W4386769981 cites W2889517514 @default.
• W4386769981 cites W2897405036 @default.
• W4386769981 cites W2909598358 @default.
• W4386769981 cites W2945005138 @default.
• W4386769981 cites W2952883732 @default.
• W4386769981 cites W2953354514 @default.
• W4386769981 cites W2980364999 @default.
• W4386769981 cites W3026319555 @default.
• W4386769981 cites W3102939328 @default.
• W4386769981 cites W3128248219 @default.
• W4386769981 cites W4214858893 @default.
• W4386769981 cites W4223433728 @default.
• W4386769981 cites W4223520055 @default.
• W4386769981 cites W4291020790 @default.
• W4386769981 cites W4384918836 @default.
• W4386769981 doi "https://doi.org/10.1101/2023.09.11.557163" @default.
• W4386769981 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37745400" @default.
• W4386769981 hasPublicationYear "2023" @default.
• W4386769981 type Work @default.
• W4386769981 citedByCount "0" @default.
• W4386769981 crossrefType "posted-content" @default.
• W4386769981 hasAuthorship W4386769981A5006085107 @default.
• W4386769981 hasAuthorship W4386769981A5007117276 @default.
• W4386769981 hasAuthorship W4386769981A5011961838 @default.
• W4386769981 hasAuthorship W4386769981A5018746391 @default.
• W4386769981 hasAuthorship W4386769981A5028511728 @default.
• W4386769981 hasAuthorship W4386769981A5051874516 @default.
• W4386769981 hasAuthorship W4386769981A5052840716 @default.
• W4386769981 hasAuthorship W4386769981A5076406057 @default.
• W4386769981 hasAuthorship W4386769981A5084389967 @default.
• W4386769981 hasBestOaLocation W43867699811 @default.
• W4386769981 hasConcept C104317684 @default.
• W4386769981 hasConcept C10590036 @default.
• W4386769981 hasConcept C106208931 @default.
• W4386769981 hasConcept C121955636 @default.
• W4386769981 hasConcept C126322002 @default.
• W4386769981 hasConcept C127716648 @default.
• W4386769981 hasConcept C135763542 @default.
• W4386769981 hasConcept C144133560 @default.
• W4386769981 hasConcept C153209595 @default.
• W4386769981 hasConcept C15744967 @default.
• W4386769981 hasConcept C16671776 @default.
• W4386769981 hasConcept C186413461 @default.
• W4386769981 hasConcept C199521495 @default.
• W4386769981 hasConcept C2780757190 @default.
• W4386769981 hasConcept C2781066024 @default.
• W4386769981 hasConcept C3019635848 @default.
• W4386769981 hasConcept C44249647 @default.
• W4386769981 hasConcept C54355233 @default.
• W4386769981 hasConcept C55493867 @default.
• W4386769981 hasConcept C71924100 @default.
• W4386769981 hasConcept C86803240 @default.
• W4386769981 hasConcept C95190672 @default.
• W4386769981 hasConceptScore W4386769981C104317684 @default.
• W4386769981 hasConceptScore W4386769981C10590036 @default.
• W4386769981 hasConceptScore W4386769981C106208931 @default.
• W4386769981 hasConceptScore W4386769981C121955636 @default.
• W4386769981 hasConceptScore W4386769981C126322002 @default.
• W4386769981 hasConceptScore W4386769981C127716648 @default.
• W4386769981 hasConceptScore W4386769981C135763542 @default.
• W4386769981 hasConceptScore W4386769981C144133560 @default.
• W4386769981 hasConceptScore W4386769981C153209595 @default.

• next