FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2915492764> ?p ?o ?g. }

• W2915492764 endingPage "3566" @default.
• W2915492764 startingPage "3559" @default.
• W2915492764 abstract "Abstract Motivation Whole-exome sequencing (WES) is now being used in clinical practice for the diagnosis of the causal genes of Mendelian diseases. In order to make the diagnosis, however, the clinical phenotypes [e.g. Human Phenotype Ontology (HPO) terms] of a patient are needed for prioritizing the variants called from the WES data of the patient. Computational tools are therefore needed to standardize and accelerate this process. Results Here, we introduce a tool named PhenoPro for prioritizing the causal gene of Mendelian disease given both the HPO terms assigned to and the variants called from the WES data of a patient. PhenoPro has been benchmarked using both simulated patients and 287 real diagnosed patients of Chinese ancestry, and shows significant improvements over five previous tools. Moreover, the addition of an internal variant data of Chinese ancestry and the variant data from the patients’ parents can further improve PhenoPro’s performance. To make PhenoPro a fully automated tool, we also include a natural language processing component for automated HPO term assignment from clinical reports, and demonstrate that the natural language processing is as effective as manual HPO assignment using real clinical reports. In conclusion, PhenoPro can be used as a pre-screening tool to assist in the diagnosis of Mendelian disease genes. Availability and implementation The web server of PhenoPro is freely available at http://app.tianlab.cn. Supplementary information Supplementary data are available at Bioinformatics online." @default.
• W2915492764 created "2019-03-02" @default.
• W2915492764 creator A5024092999 @default.
• W2915492764 creator A5025813742 @default.
• W2915492764 creator A5045634296 @default.
• W2915492764 creator A5046613771 @default.
• W2915492764 creator A5049377641 @default.
• W2915492764 creator A5060926331 @default.
• W2915492764 creator A5061375711 @default.
• W2915492764 creator A5065502386 @default.
• W2915492764 creator A5066935160 @default.
• W2915492764 creator A5075642803 @default.
• W2915492764 creator A5076608293 @default.
• W2915492764 date "2019-02-19" @default.
• W2915492764 modified "2023-10-14" @default.
• W2915492764 title "PhenoPro: a novel toolkit for assisting in the diagnosis of Mendelian disease" @default.
• W2915492764 cites W1591228931 @default.
• W2915492764 cites W1723383946 @default.
• W2915492764 cites W1971192989 @default.
• W2915492764 cites W1973154957 @default.
• W2915492764 cites W1980171391 @default.
• W2915492764 cites W1983797382 @default.
• W2915492764 cites W1984068087 @default.
• W2915492764 cites W2012361142 @default.
• W2915492764 cites W2042144338 @default.
• W2915492764 cites W2045791858 @default.
• W2915492764 cites W2046421695 @default.
• W2915492764 cites W2052369671 @default.
• W2915492764 cites W2059313072 @default.
• W2915492764 cites W2069303969 @default.
• W2915492764 cites W2079605910 @default.
• W2915492764 cites W2089903000 @default.
• W2915492764 cites W2096791516 @default.
• W2915492764 cites W2098423565 @default.
• W2915492764 cites W2104008606 @default.
• W2915492764 cites W2104570606 @default.
• W2915492764 cites W2117243134 @default.
• W2915492764 cites W2119180969 @default.
• W2915492764 cites W2119818111 @default.
• W2915492764 cites W2127006085 @default.
• W2915492764 cites W2136410628 @default.
• W2915492764 cites W2136941319 @default.
• W2915492764 cites W2138956466 @default.
• W2915492764 cites W2143602768 @default.
• W2915492764 cites W2143887298 @default.
• W2915492764 cites W2158116492 @default.
• W2915492764 cites W2165875383 @default.
• W2915492764 cites W2170282111 @default.
• W2915492764 cites W2246559112 @default.
• W2915492764 cites W2256016639 @default.
• W2915492764 cites W2400225603 @default.
• W2915492764 cites W2759570644 @default.
• W2915492764 cites W2776306955 @default.
• W2915492764 cites W954754213 @default.
• W2915492764 doi "https://doi.org/10.1093/bioinformatics/btz100" @default.
• W2915492764 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30843052" @default.
• W2915492764 hasPublicationYear "2019" @default.
• W2915492764 type Work @default.
• W2915492764 sameAs 2915492764 @default.
• W2915492764 citedByCount "24" @default.
• W2915492764 countsByYear W29154927642020 @default.
• W2915492764 countsByYear W29154927642021 @default.
• W2915492764 countsByYear W29154927642022 @default.
• W2915492764 countsByYear W29154927642023 @default.
• W2915492764 crossrefType "journal-article" @default.
• W2915492764 hasAuthorship W2915492764A5024092999 @default.
• W2915492764 hasAuthorship W2915492764A5025813742 @default.
• W2915492764 hasAuthorship W2915492764A5045634296 @default.
• W2915492764 hasAuthorship W2915492764A5046613771 @default.
• W2915492764 hasAuthorship W2915492764A5049377641 @default.
• W2915492764 hasAuthorship W2915492764A5060926331 @default.
• W2915492764 hasAuthorship W2915492764A5061375711 @default.
• W2915492764 hasAuthorship W2915492764A5065502386 @default.
• W2915492764 hasAuthorship W2915492764A5066935160 @default.
• W2915492764 hasAuthorship W2915492764A5075642803 @default.
• W2915492764 hasAuthorship W2915492764A5076608293 @default.
• W2915492764 hasConcept C104317684 @default.
• W2915492764 hasConcept C10590036 @default.
• W2915492764 hasConcept C111472728 @default.
• W2915492764 hasConcept C124101348 @default.
• W2915492764 hasConcept C127716648 @default.
• W2915492764 hasConcept C138885662 @default.
• W2915492764 hasConcept C142724271 @default.
• W2915492764 hasConcept C154945302 @default.
• W2915492764 hasConcept C16671776 @default.
• W2915492764 hasConcept C175783326 @default.
• W2915492764 hasConcept C191791410 @default.
• W2915492764 hasConcept C199360897 @default.
• W2915492764 hasConcept C25810664 @default.
• W2915492764 hasConcept C2779134260 @default.
• W2915492764 hasConcept C41008148 @default.
• W2915492764 hasConcept C501734568 @default.
• W2915492764 hasConcept C54355233 @default.
• W2915492764 hasConcept C71924100 @default.
• W2915492764 hasConcept C86803240 @default.
• W2915492764 hasConcept C98045186 @default.
• W2915492764 hasConceptScore W2915492764C104317684 @default.
• W2915492764 hasConceptScore W2915492764C10590036 @default.

• next