FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4296162014> ?p ?o ?g. }

• W4296162014 endingPage "e1009923" @default.
• W4296162014 startingPage "e1009923" @default.
• W4296162014 abstract "Rare variant association tests (RVAT) have been developed to study the contribution of rare variants widely accessible through high-throughput sequencing technologies. RVAT require to aggregate rare variants in testing units and to filter variants to retain only the most likely causal ones. In the exome, genes are natural testing units and variants are usually filtered based on their functional consequences. However, when dealing with whole-genome sequence (WGS) data, both steps are challenging. No natural biological unit is available for aggregating rare variants. Sliding windows procedures have been proposed to circumvent this difficulty, however they are blind to biological information and result in a large number of tests. We propose a new strategy to perform RVAT on WGS data: “RAVA-FIRST” (RAre Variant Association using Functionally-InfoRmed STeps) comprising three steps. (1) New testing units are defined genome-wide based on functionally-adjusted Combined Annotation Dependent Depletion (CADD) scores of variants observed in the gnomAD populations, which are referred to as “CADD regions”. (2) A region-dependent filtering of rare variants is applied in each CADD region. (3) A functionally-informed burden test is performed with sub-scores computed for each genomic category within each CADD region. Both on simulations and real data, RAVA-FIRST was found to outperform other WGS-based RVAT. Applied to a WGS dataset of venous thromboembolism patients, we identified an intergenic region on chromosome 18 enriched for rare variants in early-onset patients. This region that was missed by standard sliding windows procedures is included in a TAD region that contains a strong candidate gene. RAVA-FIRST enables new investigations of rare non-coding variants in complex diseases, facilitated by its implementation in the R package Ravages." @default.
• W4296162014 created "2022-09-18" @default.
• W4296162014 creator A5015883358 @default.
• W4296162014 creator A5020235368 @default.
• W4296162014 creator A5032934721 @default.
• W4296162014 creator A5043074910 @default.
• W4296162014 creator A5043805862 @default.
• W4296162014 creator A5049107218 @default.
• W4296162014 creator A5070950600 @default.
• W4296162014 creator A5075380485 @default.
• W4296162014 creator A5077731724 @default.
• W4296162014 creator A5080838497 @default.
• W4296162014 creator A5087103635 @default.
• W4296162014 date "2022-09-16" @default.
• W4296162014 modified "2023-10-06" @default.
• W4296162014 title "Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score" @default.
• W4296162014 cites W1865845132 @default.
• W4296162014 cites W1907868928 @default.
• W4296162014 cites W2029387902 @default.
• W4296162014 cites W2049187777 @default.
• W4296162014 cites W2058148991 @default.
• W4296162014 cites W2059126678 @default.
• W4296162014 cites W2061001265 @default.
• W4296162014 cites W2063655230 @default.
• W4296162014 cites W2064706501 @default.
• W4296162014 cites W2090037139 @default.
• W4296162014 cites W2104549677 @default.
• W4296162014 cites W2107755054 @default.
• W4296162014 cites W2123751634 @default.
• W4296162014 cites W2128016314 @default.
• W4296162014 cites W2134536226 @default.
• W4296162014 cites W2138600828 @default.
• W4296162014 cites W2163953557 @default.
• W4296162014 cites W2169304723 @default.
• W4296162014 cites W2255312347 @default.
• W4296162014 cites W2280781077 @default.
• W4296162014 cites W2401507080 @default.
• W4296162014 cites W2560119881 @default.
• W4296162014 cites W2572291320 @default.
• W4296162014 cites W2595351638 @default.
• W4296162014 cites W2679502209 @default.
• W4296162014 cites W2724944290 @default.
• W4296162014 cites W2735794637 @default.
• W4296162014 cites W2742707097 @default.
• W4296162014 cites W2767232866 @default.
• W4296162014 cites W2770026599 @default.
• W4296162014 cites W2885204059 @default.
• W4296162014 cites W2886870891 @default.
• W4296162014 cites W2900365689 @default.
• W4296162014 cites W2905452503 @default.
• W4296162014 cites W2906428190 @default.
• W4296162014 cites W2913417489 @default.
• W4296162014 cites W2945035038 @default.
• W4296162014 cites W2951901532 @default.
• W4296162014 cites W2952766192 @default.
• W4296162014 cites W2957699022 @default.
• W4296162014 cites W2968081931 @default.
• W4296162014 cites W2979095428 @default.
• W4296162014 cites W2991582640 @default.
• W4296162014 cites W3003275163 @default.
• W4296162014 cites W3020572257 @default.
• W4296162014 cites W3029661147 @default.
• W4296162014 cites W3034083044 @default.
• W4296162014 cites W3045910546 @default.
• W4296162014 cites W3081528139 @default.
• W4296162014 cites W3082575318 @default.
• W4296162014 cites W3120397859 @default.
• W4296162014 cites W3135162992 @default.
• W4296162014 cites W3181723799 @default.
• W4296162014 cites W3191451220 @default.
• W4296162014 cites W3199123373 @default.
• W4296162014 cites W3207882030 @default.
• W4296162014 cites W4223984061 @default.
• W4296162014 doi "https://doi.org/10.1371/journal.pgen.1009923" @default.
• W4296162014 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36112662" @default.
• W4296162014 hasPublicationYear "2022" @default.
• W4296162014 type Work @default.
• W4296162014 citedByCount "2" @default.
• W4296162014 countsByYear W42961620142023 @default.
• W4296162014 crossrefType "journal-article" @default.
• W4296162014 hasAuthorship W4296162014A5015883358 @default.
• W4296162014 hasAuthorship W4296162014A5020235368 @default.
• W4296162014 hasAuthorship W4296162014A5032934721 @default.
• W4296162014 hasAuthorship W4296162014A5043074910 @default.
• W4296162014 hasAuthorship W4296162014A5043805862 @default.
• W4296162014 hasAuthorship W4296162014A5049107218 @default.
• W4296162014 hasAuthorship W4296162014A5070950600 @default.
• W4296162014 hasAuthorship W4296162014A5075380485 @default.
• W4296162014 hasAuthorship W4296162014A5077731724 @default.
• W4296162014 hasAuthorship W4296162014A5080838497 @default.
• W4296162014 hasAuthorship W4296162014A5087103635 @default.
• W4296162014 hasBestOaLocation W42961620142 @default.
• W4296162014 hasConcept C104317684 @default.
• W4296162014 hasConcept C10590036 @default.
• W4296162014 hasConcept C141231307 @default.
• W4296162014 hasConcept C16671776 @default.
• W4296162014 hasConcept C24432333 @default.
• W4296162014 hasConcept C2776321320 @default.

• next