FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2177049649> ?p ?o ?g. }

• W2177049649 endingPage "e0139656" @default.
• W2177049649 startingPage "e0139656" @default.
• W2177049649 abstract "It is becoming increasingly necessary to develop computerized methods for identifying the few disease-causing variants from hundreds discovered in each individual patient. This problem is especially relevant for Copy Number Variants (CNVs), which can be cheaply interrogated via low-cost hybridization arrays commonly used in clinical practice. We present a method to predict the disease relevance of CNVs that combines functional context and clinical phenotype to discover clinically harmful CNVs (and likely causative genes) in patients with a variety of phenotypes. We compare several feature and gene weighing systems for classifying both genes and CNVs. We combined the best performing methodologies and parameters on over 2,500 Agilent CGH 180k Microarray CNVs derived from 140 patients. Our method achieved an F-score of 91.59%, with 87.08% precision and 97.00% recall. Our methods are freely available at https://github.com/compbio-UofT/cnv-prioritization. Our dataset is included with the supplementary information." @default.
• W2177049649 created "2016-06-24" @default.
• W2177049649 creator A5012113499 @default.
• W2177049649 creator A5040131479 @default.
• W2177049649 creator A5049806134 @default.
• W2177049649 creator A5067831059 @default.
• W2177049649 date "2015-10-05" @default.
• W2177049649 modified "2023-10-10" @default.
• W2177049649 title "Prioritizing Clinically Relevant Copy Number Variation from Genetic Interactions and Gene Function Data" @default.
• W2177049649 cites W1527927437 @default.
• W2177049649 cites W1980740976 @default.
• W2177049649 cites W2000941677 @default.
• W2177049649 cites W2007371217 @default.
• W2177049649 cites W2012361142 @default.
• W2177049649 cites W2054185647 @default.
• W2177049649 cites W2059145105 @default.
• W2177049649 cites W2062611449 @default.
• W2177049649 cites W2081038787 @default.
• W2177049649 cites W2085270765 @default.
• W2177049649 cites W2102304447 @default.
• W2177049649 cites W2102619694 @default.
• W2177049649 cites W2103145565 @default.
• W2177049649 cites W2108491719 @default.
• W2177049649 cites W2110313379 @default.
• W2177049649 cites W2110374888 @default.
• W2177049649 cites W2116753165 @default.
• W2177049649 cites W2119412782 @default.
• W2177049649 cites W2124649441 @default.
• W2177049649 cites W2125972858 @default.
• W2177049649 cites W2128016314 @default.
• W2177049649 cites W2130542470 @default.
• W2177049649 cites W2133313261 @default.
• W2177049649 cites W2133990480 @default.
• W2177049649 cites W2142237411 @default.
• W2177049649 cites W2159907330 @default.
• W2177049649 cites W2170282111 @default.
• W2177049649 cites W2171777347 @default.
• W2177049649 cites W2911964244 @default.
• W2177049649 doi "https://doi.org/10.1371/journal.pone.0139656" @default.
• W2177049649 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4593641" @default.
• W2177049649 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26437450" @default.
• W2177049649 hasPublicationYear "2015" @default.
• W2177049649 type Work @default.
• W2177049649 sameAs 2177049649 @default.
• W2177049649 citedByCount "8" @default.
• W2177049649 countsByYear W21770496492016 @default.
• W2177049649 countsByYear W21770496492018 @default.
• W2177049649 countsByYear W21770496492019 @default.
• W2177049649 countsByYear W21770496492020 @default.
• W2177049649 countsByYear W21770496492022 @default.
• W2177049649 countsByYear W21770496492023 @default.
• W2177049649 crossrefType "journal-article" @default.
• W2177049649 hasAuthorship W2177049649A5012113499 @default.
• W2177049649 hasAuthorship W2177049649A5040131479 @default.
• W2177049649 hasAuthorship W2177049649A5049806134 @default.
• W2177049649 hasAuthorship W2177049649A5067831059 @default.
• W2177049649 hasBestOaLocation W21770496491 @default.
• W2177049649 hasConcept C104317684 @default.
• W2177049649 hasConcept C120821319 @default.
• W2177049649 hasConcept C124942203 @default.
• W2177049649 hasConcept C141231307 @default.
• W2177049649 hasConcept C142724271 @default.
• W2177049649 hasConcept C150194340 @default.
• W2177049649 hasConcept C151730666 @default.
• W2177049649 hasConcept C162324750 @default.
• W2177049649 hasConcept C2777615720 @default.
• W2177049649 hasConcept C2779134260 @default.
• W2177049649 hasConcept C2779343474 @default.
• W2177049649 hasConcept C41008148 @default.
• W2177049649 hasConcept C539667460 @default.
• W2177049649 hasConcept C54355233 @default.
• W2177049649 hasConcept C55548728 @default.
• W2177049649 hasConcept C60644358 @default.
• W2177049649 hasConcept C70721500 @default.
• W2177049649 hasConcept C71924100 @default.
• W2177049649 hasConcept C86803240 @default.
• W2177049649 hasConceptScore W2177049649C104317684 @default.
• W2177049649 hasConceptScore W2177049649C120821319 @default.
• W2177049649 hasConceptScore W2177049649C124942203 @default.
• W2177049649 hasConceptScore W2177049649C141231307 @default.
• W2177049649 hasConceptScore W2177049649C142724271 @default.
• W2177049649 hasConceptScore W2177049649C150194340 @default.
• W2177049649 hasConceptScore W2177049649C151730666 @default.
• W2177049649 hasConceptScore W2177049649C162324750 @default.
• W2177049649 hasConceptScore W2177049649C2777615720 @default.
• W2177049649 hasConceptScore W2177049649C2779134260 @default.
• W2177049649 hasConceptScore W2177049649C2779343474 @default.
• W2177049649 hasConceptScore W2177049649C41008148 @default.
• W2177049649 hasConceptScore W2177049649C539667460 @default.
• W2177049649 hasConceptScore W2177049649C54355233 @default.
• W2177049649 hasConceptScore W2177049649C55548728 @default.
• W2177049649 hasConceptScore W2177049649C60644358 @default.
• W2177049649 hasConceptScore W2177049649C70721500 @default.
• W2177049649 hasConceptScore W2177049649C71924100 @default.
• W2177049649 hasConceptScore W2177049649C86803240 @default.
• W2177049649 hasIssue "10" @default.
• W2177049649 hasLocation W21770496491 @default.
• W2177049649 hasLocation W21770496492 @default.

• next