FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2049279965> ?p ?o ?g. }

• W2049279965 endingPage "718" @default.
• W2049279965 startingPage "714" @default.
• W2049279965 abstract "PurposeCopy-number variants have been associated with a variety of diseases, especially cancer, autism, schizophrenia, and developmental delay. The majority of clinically relevant events occur de novo, necessitating the interpretation of novel events. In this light, we present the Scripps Genome ADVISER CNV annotation pipeline and Web server, which aims to fill the gap between copy number variant detection and interpretation by performing in-depth annotations and functional predictions for copy number variants.MethodsThe Scripps Genome ADVISER CNV suite includes a Web server interface to a high-performance computing environment for calculations of annotations and a table-based user interface that allows for the execution of numerous annotation-based variant filtration strategies and statistics.ResultsThe annotation results include details regarding location, impact on the coding portion of genes, allele frequency information (including allele frequencies from the Scripps Wellderly cohort), and overlap information with other reference data sets (including ClinVar, DGV, DECIPHER). A summary variant classification is produced (ADVISER score) based on the American College of Medical Genetics and Genomics scoring guidelines. We demonstrate >90% sensitivity/specificity for detection of pathogenic events.ConclusionScripps Genome ADVISER CNV is designed to allow users with no prior bioinformatics expertise to manipulate large volumes of copy-number variant data. Scripps Genome ADVISER CNV is available at http://genomics.scripps.edu/ADVISER/.Genet Med17 9, 714–718." @default.
• W2049279965 created "2016-06-24" @default.
• W2049279965 creator A5004569243 @default.
• W2049279965 creator A5005903812 @default.
• W2049279965 creator A5012562172 @default.
• W2049279965 creator A5051736708 @default.
• W2049279965 date "2015-09-01" @default.
• W2049279965 modified "2023-10-18" @default.
• W2049279965 title "SG-ADVISER CNV: copy-number variant annotation and interpretation" @default.
• W2049279965 cites W1968034825 @default.
• W2049279965 cites W1971321176 @default.
• W2049279965 cites W1973502710 @default.
• W2049279965 cites W1989773675 @default.
• W2049279965 cites W2044823121 @default.
• W2049279965 cites W2056571985 @default.
• W2049279965 cites W2082272770 @default.
• W2049279965 cites W2082534286 @default.
• W2049279965 cites W2085755265 @default.
• W2049279965 cites W2096791516 @default.
• W2049279965 cites W2106650442 @default.
• W2049279965 cites W2116126626 @default.
• W2049279965 cites W2119412782 @default.
• W2049279965 cites W2127308517 @default.
• W2049279965 cites W2127857992 @default.
• W2049279965 cites W2128428340 @default.
• W2049279965 cites W2149681218 @default.
• W2049279965 cites W2150506261 @default.
• W2049279965 cites W2154866190 @default.
• W2049279965 cites W2158959870 @default.
• W2049279965 cites W2159165136 @default.
• W2049279965 cites W2162927194 @default.
• W2049279965 doi "https://doi.org/10.1038/gim.2014.180" @default.
• W2049279965 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4886732" @default.
• W2049279965 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25521334" @default.
• W2049279965 hasPublicationYear "2015" @default.
• W2049279965 type Work @default.
• W2049279965 sameAs 2049279965 @default.
• W2049279965 citedByCount "31" @default.
• W2049279965 countsByYear W20492799652015 @default.
• W2049279965 countsByYear W20492799652016 @default.
• W2049279965 countsByYear W20492799652017 @default.
• W2049279965 countsByYear W20492799652018 @default.
• W2049279965 countsByYear W20492799652019 @default.
• W2049279965 countsByYear W20492799652020 @default.
• W2049279965 countsByYear W20492799652021 @default.
• W2049279965 countsByYear W20492799652022 @default.
• W2049279965 countsByYear W20492799652023 @default.
• W2049279965 crossrefType "journal-article" @default.
• W2049279965 hasAuthorship W2049279965A5004569243 @default.
• W2049279965 hasAuthorship W2049279965A5005903812 @default.
• W2049279965 hasAuthorship W2049279965A5012562172 @default.
• W2049279965 hasAuthorship W2049279965A5051736708 @default.
• W2049279965 hasBestOaLocation W20492799651 @default.
• W2049279965 hasConcept C104317684 @default.
• W2049279965 hasConcept C106208931 @default.
• W2049279965 hasConcept C120821319 @default.
• W2049279965 hasConcept C135763542 @default.
• W2049279965 hasConcept C141231307 @default.
• W2049279965 hasConcept C153209595 @default.
• W2049279965 hasConcept C164614171 @default.
• W2049279965 hasConcept C166608930 @default.
• W2049279965 hasConcept C166957645 @default.
• W2049279965 hasConcept C189206191 @default.
• W2049279965 hasConcept C2776321320 @default.
• W2049279965 hasConcept C41008148 @default.
• W2049279965 hasConcept C54355233 @default.
• W2049279965 hasConcept C70721500 @default.
• W2049279965 hasConcept C79581498 @default.
• W2049279965 hasConcept C86803240 @default.
• W2049279965 hasConcept C95457728 @default.
• W2049279965 hasConceptScore W2049279965C104317684 @default.
• W2049279965 hasConceptScore W2049279965C106208931 @default.
• W2049279965 hasConceptScore W2049279965C120821319 @default.
• W2049279965 hasConceptScore W2049279965C135763542 @default.
• W2049279965 hasConceptScore W2049279965C141231307 @default.
• W2049279965 hasConceptScore W2049279965C153209595 @default.
• W2049279965 hasConceptScore W2049279965C164614171 @default.
• W2049279965 hasConceptScore W2049279965C166608930 @default.
• W2049279965 hasConceptScore W2049279965C166957645 @default.
• W2049279965 hasConceptScore W2049279965C189206191 @default.
• W2049279965 hasConceptScore W2049279965C2776321320 @default.
• W2049279965 hasConceptScore W2049279965C41008148 @default.
• W2049279965 hasConceptScore W2049279965C54355233 @default.
• W2049279965 hasConceptScore W2049279965C70721500 @default.
• W2049279965 hasConceptScore W2049279965C79581498 @default.
• W2049279965 hasConceptScore W2049279965C86803240 @default.
• W2049279965 hasConceptScore W2049279965C95457728 @default.
• W2049279965 hasIssue "9" @default.
• W2049279965 hasLocation W20492799651 @default.
• W2049279965 hasLocation W20492799652 @default.
• W2049279965 hasLocation W20492799653 @default.
• W2049279965 hasLocation W20492799654 @default.
• W2049279965 hasOpenAccess W2049279965 @default.
• W2049279965 hasPrimaryLocation W20492799651 @default.
• W2049279965 hasRelatedWork W1976142521 @default.
• W2049279965 hasRelatedWork W2046783221 @default.
• W2049279965 hasRelatedWork W2049279965 @default.
• W2049279965 hasRelatedWork W2058336589 @default.

• next