Matches in SemOpenAlex for { <https://semopenalex.org/work/W2774642743> ?p ?o ?g. }
Showing items 1 to 93 of
93
with 100 items per page.
- W2774642743 abstract "Abstract DNA can provide vast amount of information about an organism. Geneticists with the use of Next-Generation Sequencing technology are able to analyze genes variations in search of pathogenic mutations in humans. The amount of data obtained from NGS can be huge, what makes it impossible to analyze without automatic support. A number of applications was created to assist NGS data study, but the results of their computations is a list of potential causal variants, which can be treated as a suggestion. For final diagnosis doctors’ experience and broad scientific knowledge is required. To support the process of identifying pathogenic variants we are developing a solution to extract valuable information for selected genetic variants from medical articles. In our article, we would like to present our work on extending existing variant prioritization methods of Exomiser and OmimExplorer applications with the knowledge extracted from articles available in PubMed database using semantic text analysis. The results were compared with Google Scholar search results. We evaluated our work with the data of nine anonymous patients. Such approach enables medical personnel to profit from the newest scientific knowledge during the diagnosis process." @default.
- W2774642743 created "2017-12-22" @default.
- W2774642743 creator A5022701769 @default.
- W2774642743 creator A5030149703 @default.
- W2774642743 creator A5031351366 @default.
- W2774642743 date "2017-01-01" @default.
- W2774642743 modified "2023-09-26" @default.
- W2774642743 title "Automated Medical Articles Analysis for Human Genetic Diagnostic" @default.
- W2774642743 cites W1591180101 @default.
- W2774642743 cites W2029017735 @default.
- W2774642743 cites W2044986849 @default.
- W2774642743 cites W2062584010 @default.
- W2774642743 cites W2081580037 @default.
- W2774642743 cites W2101114896 @default.
- W2774642743 cites W2104549677 @default.
- W2774642743 cites W2113443914 @default.
- W2774642743 cites W2117446654 @default.
- W2774642743 cites W2119412782 @default.
- W2774642743 cites W2120109270 @default.
- W2774642743 cites W2127006085 @default.
- W2774642743 cites W2136410628 @default.
- W2774642743 cites W2143017621 @default.
- W2774642743 cites W2144430639 @default.
- W2774642743 cites W2149992227 @default.
- W2774642743 cites W2162965868 @default.
- W2774642743 cites W2176699305 @default.
- W2774642743 cites W2256016639 @default.
- W2774642743 cites W2269037521 @default.
- W2774642743 cites W2528321558 @default.
- W2774642743 cites W2612318609 @default.
- W2774642743 doi "https://doi.org/10.1016/j.procs.2017.11.103" @default.
- W2774642743 hasPublicationYear "2017" @default.
- W2774642743 type Work @default.
- W2774642743 sameAs 2774642743 @default.
- W2774642743 citedByCount "0" @default.
- W2774642743 crossrefType "journal-article" @default.
- W2774642743 hasAuthorship W2774642743A5022701769 @default.
- W2774642743 hasAuthorship W2774642743A5030149703 @default.
- W2774642743 hasAuthorship W2774642743A5031351366 @default.
- W2774642743 hasBestOaLocation W27746427431 @default.
- W2774642743 hasConcept C104317684 @default.
- W2774642743 hasConcept C111919701 @default.
- W2774642743 hasConcept C141231307 @default.
- W2774642743 hasConcept C162324750 @default.
- W2774642743 hasConcept C185592680 @default.
- W2774642743 hasConcept C197077220 @default.
- W2774642743 hasConcept C23123220 @default.
- W2774642743 hasConcept C2522767166 @default.
- W2774642743 hasConcept C2777615720 @default.
- W2774642743 hasConcept C41008148 @default.
- W2774642743 hasConcept C539667460 @default.
- W2774642743 hasConcept C55493867 @default.
- W2774642743 hasConcept C98045186 @default.
- W2774642743 hasConceptScore W2774642743C104317684 @default.
- W2774642743 hasConceptScore W2774642743C111919701 @default.
- W2774642743 hasConceptScore W2774642743C141231307 @default.
- W2774642743 hasConceptScore W2774642743C162324750 @default.
- W2774642743 hasConceptScore W2774642743C185592680 @default.
- W2774642743 hasConceptScore W2774642743C197077220 @default.
- W2774642743 hasConceptScore W2774642743C23123220 @default.
- W2774642743 hasConceptScore W2774642743C2522767166 @default.
- W2774642743 hasConceptScore W2774642743C2777615720 @default.
- W2774642743 hasConceptScore W2774642743C41008148 @default.
- W2774642743 hasConceptScore W2774642743C539667460 @default.
- W2774642743 hasConceptScore W2774642743C55493867 @default.
- W2774642743 hasConceptScore W2774642743C98045186 @default.
- W2774642743 hasLocation W27746427431 @default.
- W2774642743 hasOpenAccess W2774642743 @default.
- W2774642743 hasPrimaryLocation W27746427431 @default.
- W2774642743 hasRelatedWork W1965944445 @default.
- W2774642743 hasRelatedWork W2089216490 @default.
- W2774642743 hasRelatedWork W2109365359 @default.
- W2774642743 hasRelatedWork W2331910758 @default.
- W2774642743 hasRelatedWork W2344072604 @default.
- W2774642743 hasRelatedWork W2346533386 @default.
- W2774642743 hasRelatedWork W2389836769 @default.
- W2774642743 hasRelatedWork W2609629609 @default.
- W2774642743 hasRelatedWork W2893359941 @default.
- W2774642743 hasRelatedWork W2895907232 @default.
- W2774642743 hasRelatedWork W2903290817 @default.
- W2774642743 hasRelatedWork W2909235868 @default.
- W2774642743 hasRelatedWork W2913333227 @default.
- W2774642743 hasRelatedWork W2949894546 @default.
- W2774642743 hasRelatedWork W3034282805 @default.
- W2774642743 hasRelatedWork W3047960255 @default.
- W2774642743 hasRelatedWork W3134405451 @default.
- W2774642743 hasRelatedWork W3157710893 @default.
- W2774642743 hasRelatedWork W3165935322 @default.
- W2774642743 hasRelatedWork W3129014083 @default.
- W2774642743 isParatext "false" @default.
- W2774642743 isRetracted "false" @default.
- W2774642743 magId "2774642743" @default.
- W2774642743 workType "article" @default.