FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2955138232> ?p ?o ?g. }

• W2955138232 endingPage "591" @default.
• W2955138232 startingPage "577" @default.
• W2955138232 abstract "As the application of next generation sequencing (NGS) is moving to earlier stages in the diagnostic pipeline for primary immunodeficiencies (PIDs), re-evaluation of its effectiveness is required. The aim of this study is to systematically review the diagnostic yield of NGS in PIDs. PubMed and Embase databases were searched for relevant studies. Studies were eligible when describing the use of NGS in patients that had previously been diagnosed with PID on clinical and/or laboratory findings. Relevant data on study characteristics, technological performance and diagnostic yield were extracted. Fourteen studies were eligible for data extraction. Six studies described patient populations from specific PID subcategories. The remaining studies included patients with unsorted PIDs. The studies were based on populations from Italy, Iran, Turkey, Thailand, the Netherlands, Norway, Saudi Arabia, Sweden, the UK, and the USA. Eight studies used an array-based targeted gene panel, four used WES in combination with a PID filter, and two used both techniques. The mean reported reading depth ranged from 98 to 1337 times. Five studies described the sensitivity of the applied techniques, ranging from 83 to 100%, whereas specificity ranged from 45 to 99.9%. The percentage of patients who were genetically diagnosed ranged from 15 to 79%. Several studies described clinical implications of the genetic findings. NGS has the ability to contribute significantly to the identification of molecular mechanisms in PID patients. The diagnostic yield highly depends on population and on the technical circumstances under which NGS is employed. Further research is needed to determine the exact diagnostic yield and clinical implications of NGS in patients with PID." @default.
• W2955138232 created "2019-07-12" @default.
• W2955138232 creator A5010499673 @default.
• W2955138232 creator A5012501139 @default.
• W2955138232 creator A5012563230 @default.
• W2955138232 creator A5020854231 @default.
• W2955138232 creator A5032096648 @default.
• W2955138232 creator A5055346272 @default.
• W2955138232 date "2019-06-28" @default.
• W2955138232 modified "2023-10-16" @default.
• W2955138232 title "Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review" @default.
• W2955138232 cites W1517530710 @default.
• W2955138232 cites W1560700952 @default.
• W2955138232 cites W1854779161 @default.
• W2955138232 cites W1967350882 @default.
• W2955138232 cites W2016524406 @default.
• W2955138232 cites W2072659926 @default.
• W2955138232 cites W2078468136 @default.
• W2955138232 cites W2084940345 @default.
• W2955138232 cites W2085464750 @default.
• W2955138232 cites W2097135007 @default.
• W2955138232 cites W2097220938 @default.
• W2955138232 cites W2131029233 @default.
• W2955138232 cites W2162440922 @default.
• W2955138232 cites W2265408751 @default.
• W2955138232 cites W2275571344 @default.
• W2955138232 cites W2310664088 @default.
• W2955138232 cites W2409831280 @default.
• W2955138232 cites W2475147830 @default.
• W2955138232 cites W2490698663 @default.
• W2955138232 cites W2529663648 @default.
• W2955138232 cites W2538346310 @default.
• W2955138232 cites W2550715467 @default.
• W2955138232 cites W2572895060 @default.
• W2955138232 cites W2590662067 @default.
• W2955138232 cites W2599301666 @default.
• W2955138232 cites W2736961920 @default.
• W2955138232 cites W2756116231 @default.
• W2955138232 cites W2760838426 @default.
• W2955138232 cites W2765237286 @default.
• W2955138232 cites W2774787224 @default.
• W2955138232 cites W2791850394 @default.
• W2955138232 cites W2800682652 @default.
• W2955138232 cites W2800792544 @default.
• W2955138232 cites W2803738617 @default.
• W2955138232 cites W2809153463 @default.
• W2955138232 cites W2952344280 @default.
• W2955138232 doi "https://doi.org/10.1007/s10875-019-00656-x" @default.
• W2955138232 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6697711" @default.
• W2955138232 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31250335" @default.
• W2955138232 hasPublicationYear "2019" @default.
• W2955138232 type Work @default.
• W2955138232 sameAs 2955138232 @default.
• W2955138232 citedByCount "48" @default.
• W2955138232 countsByYear W29551382322019 @default.
• W2955138232 countsByYear W29551382322020 @default.
• W2955138232 countsByYear W29551382322021 @default.
• W2955138232 countsByYear W29551382322022 @default.
• W2955138232 countsByYear W29551382322023 @default.
• W2955138232 crossrefType "journal-article" @default.
• W2955138232 hasAuthorship W2955138232A5010499673 @default.
• W2955138232 hasAuthorship W2955138232A5012501139 @default.
• W2955138232 hasAuthorship W2955138232A5012563230 @default.
• W2955138232 hasAuthorship W2955138232A5020854231 @default.
• W2955138232 hasAuthorship W2955138232A5032096648 @default.
• W2955138232 hasAuthorship W2955138232A5055346272 @default.
• W2955138232 hasBestOaLocation W29551382321 @default.
• W2955138232 hasConcept C104317684 @default.
• W2955138232 hasConcept C126322002 @default.
• W2955138232 hasConcept C187212893 @default.
• W2955138232 hasConcept C2779019163 @default.
• W2955138232 hasConcept C2779134260 @default.
• W2955138232 hasConcept C2908647359 @default.
• W2955138232 hasConcept C51679486 @default.
• W2955138232 hasConcept C54355233 @default.
• W2955138232 hasConcept C71924100 @default.
• W2955138232 hasConcept C86803240 @default.
• W2955138232 hasConcept C99454951 @default.
• W2955138232 hasConceptScore W2955138232C104317684 @default.
• W2955138232 hasConceptScore W2955138232C126322002 @default.
• W2955138232 hasConceptScore W2955138232C187212893 @default.
• W2955138232 hasConceptScore W2955138232C2779019163 @default.
• W2955138232 hasConceptScore W2955138232C2779134260 @default.
• W2955138232 hasConceptScore W2955138232C2908647359 @default.
• W2955138232 hasConceptScore W2955138232C51679486 @default.
• W2955138232 hasConceptScore W2955138232C54355233 @default.
• W2955138232 hasConceptScore W2955138232C71924100 @default.
• W2955138232 hasConceptScore W2955138232C86803240 @default.
• W2955138232 hasConceptScore W2955138232C99454951 @default.
• W2955138232 hasFunder F4320321007 @default.
• W2955138232 hasIssue "6" @default.
• W2955138232 hasLocation W29551382321 @default.
• W2955138232 hasLocation W29551382322 @default.
• W2955138232 hasLocation W29551382323 @default.
• W2955138232 hasLocation W29551382324 @default.
• W2955138232 hasLocation W29551382325 @default.
• W2955138232 hasOpenAccess W2955138232 @default.
• W2955138232 hasPrimaryLocation W29551382321 @default.

• next