Matches in SemOpenAlex for { <https://semopenalex.org/work/W2979463516> ?p ?o ?g. }
- W2979463516 endingPage "14" @default.
- W2979463516 startingPage "4" @default.
- W2979463516 abstract "The rapid evolution and widespread use of next generation sequencing (NGS) in clinical laboratories has allowed an incredible progress in the genetic diagnostics of several inherited disorders. However, the new technologies have brought new challenges. In this review we consider the important issue of NGS data analysis, as well as the interpretation of unknown genetic variants and the management of the incidental findings. Moreover, we focus the attention on the new professional figure of bioinformatics and the new role of medical geneticists in clinical management of patients. Furthermore, we consider some of the main clinical applications of NGS, taking into consideration that there will be a growing progress in this field in the forthcoming future." @default.
- W2979463516 created "2019-10-18" @default.
- W2979463516 creator A5020735005 @default.
- W2979463516 creator A5034735571 @default.
- W2979463516 creator A5080993076 @default.
- W2979463516 creator A5089224806 @default.
- W2979463516 date "2018-04-01" @default.
- W2979463516 modified "2023-10-17" @default.
- W2979463516 title "Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities." @default.
- W2979463516 cites W145908001 @default.
- W2979463516 cites W1499222553 @default.
- W2979463516 cites W1540145179 @default.
- W2979463516 cites W1590831138 @default.
- W2979463516 cites W1876609682 @default.
- W2979463516 cites W1969198234 @default.
- W2979463516 cites W1973154957 @default.
- W2979463516 cites W1974035086 @default.
- W2979463516 cites W1974154205 @default.
- W2979463516 cites W1980069581 @default.
- W2979463516 cites W1980171391 @default.
- W2979463516 cites W1980291961 @default.
- W2979463516 cites W1991572483 @default.
- W2979463516 cites W1992935048 @default.
- W2979463516 cites W2009927311 @default.
- W2979463516 cites W2017330058 @default.
- W2979463516 cites W2017952818 @default.
- W2979463516 cites W2018130645 @default.
- W2979463516 cites W2021011578 @default.
- W2979463516 cites W2033038031 @default.
- W2979463516 cites W2035461540 @default.
- W2979463516 cites W2036334396 @default.
- W2979463516 cites W2047639980 @default.
- W2979463516 cites W2051978340 @default.
- W2979463516 cites W2054185647 @default.
- W2979463516 cites W2054895513 @default.
- W2979463516 cites W2057152418 @default.
- W2979463516 cites W2058870956 @default.
- W2979463516 cites W2059145105 @default.
- W2979463516 cites W2063067590 @default.
- W2979463516 cites W2065783627 @default.
- W2979463516 cites W2087689337 @default.
- W2979463516 cites W2093795001 @default.
- W2979463516 cites W2098746581 @default.
- W2979463516 cites W2109378245 @default.
- W2979463516 cites W2110430166 @default.
- W2979463516 cites W2121546207 @default.
- W2979463516 cites W2122732537 @default.
- W2979463516 cites W2123386536 @default.
- W2979463516 cites W2124715997 @default.
- W2979463516 cites W2129337972 @default.
- W2979463516 cites W2130027021 @default.
- W2979463516 cites W2145922766 @default.
- W2979463516 cites W2148802388 @default.
- W2979463516 cites W2158116492 @default.
- W2979463516 cites W2168440186 @default.
- W2979463516 cites W2171777347 @default.
- W2979463516 cites W2193861897 @default.
- W2979463516 cites W2262431763 @default.
- W2979463516 cites W2334739279 @default.
- W2979463516 cites W2471536144 @default.
- W2979463516 cites W2472004504 @default.
- W2979463516 cites W2594059562 @default.
- W2979463516 cites W2750053920 @default.
- W2979463516 cites W2756131771 @default.
- W2979463516 cites W363681194 @default.
- W2979463516 cites W4239818044 @default.
- W2979463516 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5949614" @default.
- W2979463516 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29765282" @default.
- W2979463516 hasPublicationYear "2018" @default.
- W2979463516 type Work @default.
- W2979463516 sameAs 2979463516 @default.
- W2979463516 citedByCount "39" @default.
- W2979463516 countsByYear W29794635162018 @default.
- W2979463516 countsByYear W29794635162019 @default.
- W2979463516 countsByYear W29794635162020 @default.
- W2979463516 countsByYear W29794635162021 @default.
- W2979463516 countsByYear W29794635162022 @default.
- W2979463516 countsByYear W29794635162023 @default.
- W2979463516 crossrefType "journal-article" @default.
- W2979463516 hasAuthorship W2979463516A5020735005 @default.
- W2979463516 hasAuthorship W2979463516A5034735571 @default.
- W2979463516 hasAuthorship W2979463516A5080993076 @default.
- W2979463516 hasAuthorship W2979463516A5089224806 @default.
- W2979463516 hasConcept C127413603 @default.
- W2979463516 hasConcept C2522767166 @default.
- W2979463516 hasConcept C41008148 @default.
- W2979463516 hasConcept C51679486 @default.
- W2979463516 hasConcept C54355233 @default.
- W2979463516 hasConcept C552990157 @default.
- W2979463516 hasConcept C55587333 @default.
- W2979463516 hasConcept C70721500 @default.
- W2979463516 hasConcept C71924100 @default.
- W2979463516 hasConcept C86803240 @default.
- W2979463516 hasConceptScore W2979463516C127413603 @default.
- W2979463516 hasConceptScore W2979463516C2522767166 @default.
- W2979463516 hasConceptScore W2979463516C41008148 @default.
- W2979463516 hasConceptScore W2979463516C51679486 @default.
- W2979463516 hasConceptScore W2979463516C54355233 @default.