FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1967476238> ?p ?o ?g. }

• W1967476238 endingPage "608" @default.
• W1967476238 startingPage "601" @default.
• W1967476238 abstract "PurposeDilated cardiomyopathy is characterized by substantial locus, allelic, and clinical heterogeneity that necessitates testing of many genes across clinically overlapping diseases. Few studies have sequenced sufficient individuals; thus, the contributions of individual genes and the pathogenic variant spectrum are still poorly defined. We analyzed 766 dilated cardiomyopathy patients tested over 5 years in our molecular diagnostics laboratory.MethodsPatients were tested using gene panels of increasing size from 5 to 46 genes, including 121 cases tested with a multiple-cardiomyopathy next-generation panel covering 46 genes. All variants were reassessed using our current clinical-grade scoring system to eliminate false-positive disease associations that afflict many older analyses.ResultsUp to 37% of dilated cardiomyopathy cases carry a clinically relevant variant in one of 20 genes, titin (TTN) being the largest contributor (up to 14%). Desmoplakin (DSP), an arrhythmogenic right ventricular cardiomyopathy gene, contributed 2.4%, illustrating the utility of multidisease testing. The clinical sensitivity increased from 10 to 37% as gene panel sizes increased. However, the number of inconclusive cases also increased from 4.6 to 51%.ConclusionOur data illustrate the utility of broad gene panels for genetically and clinically heterogeneous diseases but also highlight challenges as molecular diagnostics moves toward genome-wide testing." @default.
• W1967476238 created "2016-06-24" @default.
• W1967476238 creator A5000514591 @default.
• W1967476238 creator A5001742369 @default.
• W1967476238 creator A5003733519 @default.
• W1967476238 creator A5011382331 @default.
• W1967476238 creator A5014144046 @default.
• W1967476238 creator A5028478747 @default.
• W1967476238 creator A5028602785 @default.
• W1967476238 creator A5028742598 @default.
• W1967476238 creator A5036794837 @default.
• W1967476238 creator A5052568194 @default.
• W1967476238 creator A5067494801 @default.
• W1967476238 creator A5072207500 @default.
• W1967476238 creator A5074768707 @default.
• W1967476238 creator A5080516152 @default.
• W1967476238 creator A5082601374 @default.
• W1967476238 creator A5088243626 @default.
• W1967476238 date "2014-08-01" @default.
• W1967476238 modified "2023-10-01" @default.
• W1967476238 title "The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing" @default.
• W1967476238 cites W1252778408 @default.
• W1967476238 cites W145908001 @default.
• W1967476238 cites W1565187328 @default.
• W1967476238 cites W1673813955 @default.
• W1967476238 cites W1974827712 @default.
• W1967476238 cites W1978953141 @default.
• W1967476238 cites W1984017781 @default.
• W1967476238 cites W1991072112 @default.
• W1967476238 cites W1993190948 @default.
• W1967476238 cites W2011971884 @default.
• W1967476238 cites W2042420022 @default.
• W1967476238 cites W2044794783 @default.
• W1967476238 cites W2046707584 @default.
• W1967476238 cites W2056015955 @default.
• W1967476238 cites W2062419424 @default.
• W1967476238 cites W2082794789 @default.
• W1967476238 cites W2083422935 @default.
• W1967476238 cites W2086554842 @default.
• W1967476238 cites W2096791516 @default.
• W1967476238 cites W2103441770 @default.
• W1967476238 cites W2117919604 @default.
• W1967476238 cites W2119180969 @default.
• W1967476238 cites W2120842280 @default.
• W1967476238 cites W2126324117 @default.
• W1967476238 cites W2146665756 @default.
• W1967476238 cites W2156109088 @default.
• W1967476238 cites W2157218076 @default.
• W1967476238 cites W2167989424 @default.
• W1967476238 cites W2168133698 @default.
• W1967476238 doi "https://doi.org/10.1038/gim.2013.204" @default.
• W1967476238 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24503780" @default.
• W1967476238 hasPublicationYear "2014" @default.
• W1967476238 type Work @default.
• W1967476238 sameAs 1967476238 @default.
• W1967476238 citedByCount "257" @default.
• W1967476238 countsByYear W19674762382014 @default.
• W1967476238 countsByYear W19674762382015 @default.
• W1967476238 countsByYear W19674762382016 @default.
• W1967476238 countsByYear W19674762382017 @default.
• W1967476238 countsByYear W19674762382018 @default.
• W1967476238 countsByYear W19674762382019 @default.
• W1967476238 countsByYear W19674762382020 @default.
• W1967476238 countsByYear W19674762382021 @default.
• W1967476238 countsByYear W19674762382022 @default.
• W1967476238 countsByYear W19674762382023 @default.
• W1967476238 crossrefType "journal-article" @default.
• W1967476238 hasAuthorship W1967476238A5000514591 @default.
• W1967476238 hasAuthorship W1967476238A5001742369 @default.
• W1967476238 hasAuthorship W1967476238A5003733519 @default.
• W1967476238 hasAuthorship W1967476238A5011382331 @default.
• W1967476238 hasAuthorship W1967476238A5014144046 @default.
• W1967476238 hasAuthorship W1967476238A5028478747 @default.
• W1967476238 hasAuthorship W1967476238A5028602785 @default.
• W1967476238 hasAuthorship W1967476238A5028742598 @default.
• W1967476238 hasAuthorship W1967476238A5036794837 @default.
• W1967476238 hasAuthorship W1967476238A5052568194 @default.
• W1967476238 hasAuthorship W1967476238A5067494801 @default.
• W1967476238 hasAuthorship W1967476238A5072207500 @default.
• W1967476238 hasAuthorship W1967476238A5074768707 @default.
• W1967476238 hasAuthorship W1967476238A5080516152 @default.
• W1967476238 hasAuthorship W1967476238A5082601374 @default.
• W1967476238 hasAuthorship W1967476238A5088243626 @default.
• W1967476238 hasBestOaLocation W19674762381 @default.
• W1967476238 hasConcept C104317684 @default.
• W1967476238 hasConcept C126322002 @default.
• W1967476238 hasConcept C127716648 @default.
• W1967476238 hasConcept C207200792 @default.
• W1967476238 hasConcept C2776383484 @default.
• W1967476238 hasConcept C2778198053 @default.
• W1967476238 hasConcept C2778797674 @default.
• W1967476238 hasConcept C2779134260 @default.
• W1967476238 hasConcept C2780673598 @default.
• W1967476238 hasConcept C54355233 @default.
• W1967476238 hasConcept C60644358 @default.
• W1967476238 hasConcept C64618202 @default.
• W1967476238 hasConcept C68731436 @default.
• W1967476238 hasConcept C71924100 @default.

• next