FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2898810435> ?p ?o ?g. }

• W2898810435 endingPage "141" @default.
• W2898810435 startingPage "141" @default.
• W2898810435 abstract "Hearing loss (HL) is a highly prevalent heterogeneous deficiency of sensory-neural system with involvement of several dozen genes. Whole-exome sequencing (WES) is capable of discovering known and novel genes involved with HL.Two pedigrees with HL background from Khuzestan province of Iran were selected. Polymerase chain reaction-sequencing of GJB2 and homozygosity mapping of 16 DFNB loci were performed. One patient of the first and two affected individuals from the second pedigree were subjected to WES. The result files were analyzed using tools on Ubuntu 16.04. Short reads were mapped to reference genome (hg19, NCBI Build 37). Sorting and duplication removals were done. Variants were obtained and annotated by an online software tool. Variant filtration was performed. In the first family, ENDEAVOUR was applied to prioritize candidate genes. In the second family, a combination of shared variants, homozygosity mapping, and gene expression were implemented to launch the disease-causing gene.GJB2 sequencing and linkage analysis established no homozygosity-by-descent at any DFNB loci. Utilizing ENDEAVOUR, BBX: C.C857G (P.A286G), and MYH15: C.C5557T (P.R1853C) were put forward, but none of the variants co-segregated with the phenotype. Two genes, UNC13B and TRAK1, were prioritized in the homozygous regions detected by HomozygosityMapper.WES is regarded a powerful approach to discover molecular etiology of Mendelian inherited disorders, but as it fails to enrich GC-rich regions, incapability of capturing noncoding regulatory regions and limited specificity and accuracy of copy number variations detection tools from exome data, it is assumed an insufficient procedure." @default.
• W2898810435 created "2018-11-09" @default.
• W2898810435 creator A5036177021 @default.
• W2898810435 creator A5037852682 @default.
• W2898810435 creator A5045688624 @default.
• W2898810435 creator A5054693051 @default.
• W2898810435 creator A5068960314 @default.
• W2898810435 creator A5072092537 @default.
• W2898810435 date "2018-01-01" @default.
• W2898810435 modified "2023-09-26" @default.
• W2898810435 title "Applying Two Different Bioinformatic Approaches to Discover Novel Genes Associated with Hereditary Hearing Loss via Whole-Exome Sequencing: ENDEAVOUR and HomozygosityMapper" @default.
• W2898810435 cites W1847597758 @default.
• W2898810435 cites W1967367142 @default.
• W2898810435 cites W1968709543 @default.
• W2898810435 cites W1981265676 @default.
• W2898810435 cites W1991259792 @default.
• W2898810435 cites W1994718834 @default.
• W2898810435 cites W2012352152 @default.
• W2898810435 cites W2023678743 @default.
• W2898810435 cites W2045767540 @default.
• W2898810435 cites W2061361740 @default.
• W2898810435 cites W2061424770 @default.
• W2898810435 cites W2071024393 @default.
• W2898810435 cites W2078786333 @default.
• W2898810435 cites W2080469937 @default.
• W2898810435 cites W2081695929 @default.
• W2898810435 cites W2089787897 @default.
• W2898810435 cites W2092890929 @default.
• W2898810435 cites W2093298785 @default.
• W2898810435 cites W2103755263 @default.
• W2898810435 cites W2106696188 @default.
• W2898810435 cites W2118526609 @default.
• W2898810435 cites W2128031979 @default.
• W2898810435 cites W2139587978 @default.
• W2898810435 cites W2143546222 @default.
• W2898810435 cites W2144148637 @default.
• W2898810435 cites W2147387551 @default.
• W2898810435 cites W2155601625 @default.
• W2898810435 cites W2182082008 @default.
• W2898810435 cites W2343509590 @default.
• W2898810435 cites W2510298658 @default.
• W2898810435 cites W2626098704 @default.
• W2898810435 cites W2790715874 @default.
• W2898810435 cites W2795137931 @default.
• W2898810435 doi "https://doi.org/10.4103/abr.abr_80_18" @default.
• W2898810435 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6233028" @default.
• W2898810435 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30505812" @default.
• W2898810435 hasPublicationYear "2018" @default.
• W2898810435 type Work @default.
• W2898810435 sameAs 2898810435 @default.
• W2898810435 citedByCount "3" @default.
• W2898810435 countsByYear W28988104352020 @default.
• W2898810435 countsByYear W28988104352022 @default.
• W2898810435 crossrefType "journal-article" @default.
• W2898810435 hasAuthorship W2898810435A5036177021 @default.
• W2898810435 hasAuthorship W2898810435A5037852682 @default.
• W2898810435 hasAuthorship W2898810435A5045688624 @default.
• W2898810435 hasAuthorship W2898810435A5054693051 @default.
• W2898810435 hasAuthorship W2898810435A5068960314 @default.
• W2898810435 hasAuthorship W2898810435A5072092537 @default.
• W2898810435 hasBestOaLocation W28988104351 @default.
• W2898810435 hasConcept C104317684 @default.
• W2898810435 hasConcept C10590036 @default.
• W2898810435 hasConcept C120821319 @default.
• W2898810435 hasConcept C127716648 @default.
• W2898810435 hasConcept C130895681 @default.
• W2898810435 hasConcept C141231307 @default.
• W2898810435 hasConcept C16671776 @default.
• W2898810435 hasConcept C22593422 @default.
• W2898810435 hasConcept C24432333 @default.
• W2898810435 hasConcept C54355233 @default.
• W2898810435 hasConcept C69991583 @default.
• W2898810435 hasConcept C70721500 @default.
• W2898810435 hasConcept C7602840 @default.
• W2898810435 hasConcept C86803240 @default.
• W2898810435 hasConceptScore W2898810435C104317684 @default.
• W2898810435 hasConceptScore W2898810435C10590036 @default.
• W2898810435 hasConceptScore W2898810435C120821319 @default.
• W2898810435 hasConceptScore W2898810435C127716648 @default.
• W2898810435 hasConceptScore W2898810435C130895681 @default.
• W2898810435 hasConceptScore W2898810435C141231307 @default.
• W2898810435 hasConceptScore W2898810435C16671776 @default.
• W2898810435 hasConceptScore W2898810435C22593422 @default.
• W2898810435 hasConceptScore W2898810435C24432333 @default.
• W2898810435 hasConceptScore W2898810435C54355233 @default.
• W2898810435 hasConceptScore W2898810435C69991583 @default.
• W2898810435 hasConceptScore W2898810435C70721500 @default.
• W2898810435 hasConceptScore W2898810435C7602840 @default.
• W2898810435 hasConceptScore W2898810435C86803240 @default.
• W2898810435 hasIssue "1" @default.
• W2898810435 hasLocation W28988104351 @default.
• W2898810435 hasLocation W28988104352 @default.
• W2898810435 hasLocation W28988104353 @default.
• W2898810435 hasLocation W28988104354 @default.
• W2898810435 hasOpenAccess W2898810435 @default.
• W2898810435 hasPrimaryLocation W28988104351 @default.
• W2898810435 hasRelatedWork W1964573065 @default.
• W2898810435 hasRelatedWork W2038536733 @default.

• next