FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2422550876> ?p ?o ?g. }

• W2422550876 endingPage "341" @default.
• W2422550876 startingPage "337" @default.
• W2422550876 abstract "Several nuclear genes have been found to be linked to ichthyosis, and Next Generation Sequencing approach on panels of targeted genes has turned out to be particularly useful in analyzing diseases characterized by significant genetic and phenotypic heterogeneity. We developed a panel of 26 genes to be screened with the Ion Personal Genome Machine (PGM) for causative mutations relating to ichthyosis. Sequencing runs were obtained from a patient with ichthyosis using the Ion Torrent PGM and then processed with Ion Torrent Suite, Variant Caller, Coverage Analysis and wANNOVER tools. No causative mutations were found using Variant Caller and wANNOVER softwares, whereas the “Coverage Analysis” tool revealed a common large deletion in STS gene in a patient with X-linked ichthyosis. Identification of indels in Next Generation Sequencing (NGS) data is a veritable challenge. This study demonstrates the efficacy and effectiveness of using NGS approach to detect large deletions without resorting to specific algorithms for “indel” detection. Our results indicate that the NGS panel is a useful, rapid and cost-effective screening test for patients whose features are suggestive of a genetic etiology involving one of the genes embedded in the panel. It is an excellent alternative to Sanger sequencing as for costs, ease of analysis, and turnaround time." @default.
• W2422550876 created "2016-06-24" @default.
• W2422550876 creator A5021643182 @default.
• W2422550876 creator A5043930833 @default.
• W2422550876 creator A5056376245 @default.
• W2422550876 creator A5057463371 @default.
• W2422550876 creator A5061077929 @default.
• W2422550876 creator A5061257310 @default.
• W2422550876 creator A5068631248 @default.
• W2422550876 creator A5071544528 @default.
• W2422550876 creator A5087256077 @default.
• W2422550876 creator A5089104289 @default.
• W2422550876 date "2016-01-01" @default.
• W2422550876 modified "2023-09-25" @default.
• W2422550876 title "A Multiplex PCR-Based Next-Generation Sequencing Approach Has Detected a Common Large Deletion in STS Gene in a Patient with X-Linked Ichthyosis" @default.
• W2422550876 cites W1518242812 @default.
• W2422550876 cites W1964477845 @default.
• W2422550876 cites W1980030962 @default.
• W2422550876 cites W2003047150 @default.
• W2422550876 cites W2021341670 @default.
• W2422550876 cites W2036513940 @default.
• W2422550876 cites W2039051347 @default.
• W2422550876 cites W2047024612 @default.
• W2422550876 cites W2051039710 @default.
• W2422550876 cites W2103903744 @default.
• W2422550876 cites W2117131162 @default.
• W2422550876 cites W2118526609 @default.
• W2422550876 cites W2119155691 @default.
• W2422550876 cites W2123053428 @default.
• W2422550876 cites W2139013282 @default.
• W2422550876 cites W2225287204 @default.
• W2422550876 cites W622560015 @default.
• W2422550876 doi "https://doi.org/10.4236/jbise.2016.97028" @default.
• W2422550876 hasPublicationYear "2016" @default.
• W2422550876 type Work @default.
• W2422550876 sameAs 2422550876 @default.
• W2422550876 citedByCount "0" @default.
• W2422550876 crossrefType "journal-article" @default.
• W2422550876 hasAuthorship W2422550876A5021643182 @default.
• W2422550876 hasAuthorship W2422550876A5043930833 @default.
• W2422550876 hasAuthorship W2422550876A5056376245 @default.
• W2422550876 hasAuthorship W2422550876A5057463371 @default.
• W2422550876 hasAuthorship W2422550876A5061077929 @default.
• W2422550876 hasAuthorship W2422550876A5061257310 @default.
• W2422550876 hasAuthorship W2422550876A5068631248 @default.
• W2422550876 hasAuthorship W2422550876A5071544528 @default.
• W2422550876 hasAuthorship W2422550876A5087256077 @default.
• W2422550876 hasAuthorship W2422550876A5089104289 @default.
• W2422550876 hasBestOaLocation W24225508761 @default.
• W2422550876 hasConcept C104317684 @default.
• W2422550876 hasConcept C119054055 @default.
• W2422550876 hasConcept C127716648 @default.
• W2422550876 hasConcept C135763542 @default.
• W2422550876 hasConcept C141231307 @default.
• W2422550876 hasConcept C153209595 @default.
• W2422550876 hasConcept C164928082 @default.
• W2422550876 hasConcept C189206191 @default.
• W2422550876 hasConcept C192800701 @default.
• W2422550876 hasConcept C24103923 @default.
• W2422550876 hasConcept C2776292323 @default.
• W2422550876 hasConcept C2781188995 @default.
• W2422550876 hasConcept C2910530303 @default.
• W2422550876 hasConcept C51679486 @default.
• W2422550876 hasConcept C54355233 @default.
• W2422550876 hasConcept C64618202 @default.
• W2422550876 hasConcept C70721500 @default.
• W2422550876 hasConcept C76818968 @default.
• W2422550876 hasConcept C86803240 @default.
• W2422550876 hasConceptScore W2422550876C104317684 @default.
• W2422550876 hasConceptScore W2422550876C119054055 @default.
• W2422550876 hasConceptScore W2422550876C127716648 @default.
• W2422550876 hasConceptScore W2422550876C135763542 @default.
• W2422550876 hasConceptScore W2422550876C141231307 @default.
• W2422550876 hasConceptScore W2422550876C153209595 @default.
• W2422550876 hasConceptScore W2422550876C164928082 @default.
• W2422550876 hasConceptScore W2422550876C189206191 @default.
• W2422550876 hasConceptScore W2422550876C192800701 @default.
• W2422550876 hasConceptScore W2422550876C24103923 @default.
• W2422550876 hasConceptScore W2422550876C2776292323 @default.
• W2422550876 hasConceptScore W2422550876C2781188995 @default.
• W2422550876 hasConceptScore W2422550876C2910530303 @default.
• W2422550876 hasConceptScore W2422550876C51679486 @default.
• W2422550876 hasConceptScore W2422550876C54355233 @default.
• W2422550876 hasConceptScore W2422550876C64618202 @default.
• W2422550876 hasConceptScore W2422550876C70721500 @default.
• W2422550876 hasConceptScore W2422550876C76818968 @default.
• W2422550876 hasConceptScore W2422550876C86803240 @default.
• W2422550876 hasIssue "07" @default.
• W2422550876 hasLocation W24225508761 @default.
• W2422550876 hasOpenAccess W2422550876 @default.
• W2422550876 hasPrimaryLocation W24225508761 @default.
• W2422550876 hasRelatedWork W1923082386 @default.
• W2422550876 hasRelatedWork W2016680388 @default.
• W2422550876 hasRelatedWork W2210202376 @default.
• W2422550876 hasRelatedWork W2422550876 @default.
• W2422550876 hasRelatedWork W2594101465 @default.
• W2422550876 hasRelatedWork W2605297139 @default.
• W2422550876 hasRelatedWork W2765680661 @default.

• next