FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3025143019> ?p ?o ?g. }

• W3025143019 endingPage "780" @default.
• W3025143019 startingPage "772" @default.
• W3025143019 abstract "Next-generation sequencing (NGS) is a useful tool for evaluating patients with suspected genetic kidney disease. Clinical practice relies on the use of targeted gene panels that are ordered based on patient presentation. We compare the diagnostic yield of clinical panel-based testing to exome analysis.In total, 324 consecutive patients underwent physician-ordered, panel-based NGS testing between December 2014 and October 2018. Gene panels were available for four clinical phenotypes, including atypical hemolytic uremic syndrome (n=224), nephrotic syndrome (n=56), cystic kidney disease (n=26), and Alport syndrome (n=13). Variants were analyzed and clinical reports were signed out by a pathologist or clinical geneticist at the time of testing. Subsequently, all patients underwent retrospective exome analysis to detect additional clinically significant variants in kidney disease genes that were not analyzed as part of the initial clinical gene panel. Resulting variants were classified according to the American College of Medical Genetics and Genomics 2015 guidelines.In the initial physician-ordered gene panels, we identified clinically significant pathogenic or likely pathogenic variants in 13% of patients (n=42/324). CFHR3-CFHR1 homozygous deletion was detected in an additional 13 patients with aHUS without a pathogenic or likely pathogenic variant. Diagnostic yield of the initial physician-ordered gene panel was 20% and varied between groups. Retrospective exome analysis identified 18 patients with a previously unknown pathogenic or likely pathogenic variant in a kidney disease gene and eight patients with a high-risk APOL1 genotype. Overall, retrospective exome analysis increased the diagnostic yield of panel-based testing from 20% to 30%.These results highlight the importance of a broad and collaborative approach between the clinical laboratory and their physician clients that employs additional analysis when a targeted panel of kidney disease-causing genes does not return a clinically meaningful result." @default.
• W3025143019 created "2020-05-21" @default.
• W3025143019 creator A5019997139 @default.
• W3025143019 creator A5062040310 @default.
• W3025143019 creator A5065371647 @default.
• W3025143019 creator A5073669575 @default.
• W3025143019 creator A5074798932 @default.
• W3025143019 creator A5083501945 @default.
• W3025143019 date "2020-08-01" @default.
• W3025143019 modified "2023-09-30" @default.
• W3025143019 title "Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease" @default.
• W3025143019 cites W1486468021 @default.
• W3025143019 cites W1597344058 @default.
• W3025143019 cites W1810449319 @default.
• W3025143019 cites W1979796674 @default.
• W3025143019 cites W1999936969 @default.
• W3025143019 cites W2036694775 @default.
• W3025143019 cites W2040128316 @default.
• W3025143019 cites W2043018978 @default.
• W3025143019 cites W2043992490 @default.
• W3025143019 cites W2049133802 @default.
• W3025143019 cites W2051978340 @default.
• W3025143019 cites W2078678532 @default.
• W3025143019 cites W2098746581 @default.
• W3025143019 cites W2104537588 @default.
• W3025143019 cites W2114738843 @default.
• W3025143019 cites W2116444145 @default.
• W3025143019 cites W2122084492 @default.
• W3025143019 cites W2124641083 @default.
• W3025143019 cites W2161949692 @default.
• W3025143019 cites W2163605874 @default.
• W3025143019 cites W2171275709 @default.
• W3025143019 cites W2217416385 @default.
• W3025143019 cites W2227226708 @default.
• W3025143019 cites W2256016639 @default.
• W3025143019 cites W2278141069 @default.
• W3025143019 cites W2311223872 @default.
• W3025143019 cites W2400963829 @default.
• W3025143019 cites W2560167296 @default.
• W3025143019 cites W2739953920 @default.
• W3025143019 cites W2744758050 @default.
• W3025143019 cites W2765197015 @default.
• W3025143019 cites W2765282288 @default.
• W3025143019 cites W2783075063 @default.
• W3025143019 cites W2789691456 @default.
• W3025143019 cites W2888728741 @default.
• W3025143019 cites W2898954224 @default.
• W3025143019 cites W2906428833 @default.
• W3025143019 cites W2908533512 @default.
• W3025143019 doi "https://doi.org/10.34067/kid.0001342020" @default.
• W3025143019 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35372954" @default.
• W3025143019 hasPublicationYear "2020" @default.
• W3025143019 type Work @default.
• W3025143019 sameAs 3025143019 @default.
• W3025143019 citedByCount "6" @default.
• W3025143019 countsByYear W30251430192020 @default.
• W3025143019 countsByYear W30251430192021 @default.
• W3025143019 countsByYear W30251430192022 @default.
• W3025143019 countsByYear W30251430192023 @default.
• W3025143019 crossrefType "journal-article" @default.
• W3025143019 hasAuthorship W3025143019A5019997139 @default.
• W3025143019 hasAuthorship W3025143019A5062040310 @default.
• W3025143019 hasAuthorship W3025143019A5065371647 @default.
• W3025143019 hasAuthorship W3025143019A5073669575 @default.
• W3025143019 hasAuthorship W3025143019A5074798932 @default.
• W3025143019 hasAuthorship W3025143019A5083501945 @default.
• W3025143019 hasBestOaLocation W30251430191 @default.
• W3025143019 hasConcept C104317684 @default.
• W3025143019 hasConcept C10590036 @default.
• W3025143019 hasConcept C126322002 @default.
• W3025143019 hasConcept C127716648 @default.
• W3025143019 hasConcept C142724271 @default.
• W3025143019 hasConcept C16671776 @default.
• W3025143019 hasConcept C167135981 @default.
• W3025143019 hasConcept C2778415529 @default.
• W3025143019 hasConcept C2778653478 @default.
• W3025143019 hasConcept C2779134260 @default.
• W3025143019 hasConcept C2780091579 @default.
• W3025143019 hasConcept C2780368995 @default.
• W3025143019 hasConcept C2780673598 @default.
• W3025143019 hasConcept C54355233 @default.
• W3025143019 hasConcept C60644358 @default.
• W3025143019 hasConcept C64474127 @default.
• W3025143019 hasConcept C71924100 @default.
• W3025143019 hasConcept C86803240 @default.
• W3025143019 hasConceptScore W3025143019C104317684 @default.
• W3025143019 hasConceptScore W3025143019C10590036 @default.
• W3025143019 hasConceptScore W3025143019C126322002 @default.
• W3025143019 hasConceptScore W3025143019C127716648 @default.
• W3025143019 hasConceptScore W3025143019C142724271 @default.
• W3025143019 hasConceptScore W3025143019C16671776 @default.
• W3025143019 hasConceptScore W3025143019C167135981 @default.
• W3025143019 hasConceptScore W3025143019C2778415529 @default.
• W3025143019 hasConceptScore W3025143019C2778653478 @default.
• W3025143019 hasConceptScore W3025143019C2779134260 @default.
• W3025143019 hasConceptScore W3025143019C2780091579 @default.
• W3025143019 hasConceptScore W3025143019C2780368995 @default.
• W3025143019 hasConceptScore W3025143019C2780673598 @default.

• next