Matches in SemOpenAlex for { <https://semopenalex.org/work/W2983332596> ?p ?o ?g. }
- W2983332596 endingPage "305" @default.
- W2983332596 startingPage "295" @default.
- W2983332596 abstract "Abstract Background The clinical diagnosis of genetic renal diseases may be limited by the overlapping spectrum of manifestations between diseases or by the advancement of disease where clues to the original process are absent. The objective of this study was to determine whether genetic testing informs diagnosis and facilitates management of kidney disease patients. Methods We developed a comprehensive genetic testing panel (KidneySeq) to evaluate patients with various phenotypes including cystic diseases, congenital anomalies of the kidney and urinary tract (CAKUT), tubulointerstitial diseases, transport disorders and glomerular diseases. We evaluated this panel in 127 consecutive patients ranging in age from newborns to 81 years who had samples sent in for genetic testing. Results The performance of the sequencing pipeline for single-nucleotide variants was validated using CEPH (Centre de’Etude du Polymorphism) controls and for indels using Genome-in-a-Bottle. To test the reliability of the copy number variant (CNV) analysis, positive samples were re-sequenced and analyzed. For patient samples, a multidisciplinary review board interpreted genetic results in the context of clinical data. A genetic diagnosis was made in 54 (43%) patients and ranged from 54% for CAKUT, 53% for ciliopathies/tubulointerstitial diseases, 45% for transport disorders to 33% for glomerulopathies. Pathogenic and likely pathogenic variants included 46% missense, 11% nonsense, 6% splice site variants, 23% insertion–deletions and 14% CNVs. In 13 cases, the genetic result changed the clinical diagnosis. Conclusion Broad genetic testing should be considered in the evaluation of renal patients as it complements other tests and provides insight into the underlying disease and its management." @default.
- W2983332596 created "2019-11-22" @default.
- W2983332596 creator A5014833790 @default.
- W2983332596 creator A5036696731 @default.
- W2983332596 creator A5039950379 @default.
- W2983332596 creator A5058256064 @default.
- W2983332596 creator A5075178786 @default.
- W2983332596 creator A5080101531 @default.
- W2983332596 creator A5086943690 @default.
- W2983332596 creator A5089003112 @default.
- W2983332596 creator A5090852510 @default.
- W2983332596 date "2019-11-18" @default.
- W2983332596 modified "2023-10-16" @default.
- W2983332596 title "Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases" @default.
- W2983332596 cites W1561921956 @default.
- W2983332596 cites W1965071252 @default.
- W2983332596 cites W1967385085 @default.
- W2983332596 cites W1968384628 @default.
- W2983332596 cites W1968907197 @default.
- W2983332596 cites W1971322148 @default.
- W2983332596 cites W1981054886 @default.
- W2983332596 cites W1985305635 @default.
- W2983332596 cites W1998554604 @default.
- W2983332596 cites W2003260901 @default.
- W2983332596 cites W2010569391 @default.
- W2983332596 cites W2014499368 @default.
- W2983332596 cites W2018216286 @default.
- W2983332596 cites W2025161059 @default.
- W2983332596 cites W2039508988 @default.
- W2983332596 cites W2041528543 @default.
- W2983332596 cites W2047304258 @default.
- W2983332596 cites W2050537214 @default.
- W2983332596 cites W2051708905 @default.
- W2983332596 cites W2051978340 @default.
- W2983332596 cites W2054509848 @default.
- W2983332596 cites W2056870876 @default.
- W2983332596 cites W2057643403 @default.
- W2983332596 cites W2057843157 @default.
- W2983332596 cites W2060417979 @default.
- W2983332596 cites W2065004259 @default.
- W2983332596 cites W2070588709 @default.
- W2983332596 cites W2072183426 @default.
- W2983332596 cites W2072513729 @default.
- W2983332596 cites W2076609949 @default.
- W2983332596 cites W2077388406 @default.
- W2983332596 cites W2082089532 @default.
- W2983332596 cites W2085873939 @default.
- W2983332596 cites W2088370408 @default.
- W2983332596 cites W2092388268 @default.
- W2983332596 cites W2093964879 @default.
- W2983332596 cites W2098559443 @default.
- W2983332596 cites W2099346627 @default.
- W2983332596 cites W2100659482 @default.
- W2983332596 cites W2108663864 @default.
- W2983332596 cites W2113035291 @default.
- W2983332596 cites W2113593098 @default.
- W2983332596 cites W2115437482 @default.
- W2983332596 cites W2116444145 @default.
- W2983332596 cites W2116811919 @default.
- W2983332596 cites W2119818111 @default.
- W2983332596 cites W2122067227 @default.
- W2983332596 cites W2123383239 @default.
- W2983332596 cites W2123873294 @default.
- W2983332596 cites W2124641083 @default.
- W2983332596 cites W2125646794 @default.
- W2983332596 cites W2129561104 @default.
- W2983332596 cites W2129903993 @default.
- W2983332596 cites W2130859709 @default.
- W2983332596 cites W2135723469 @default.
- W2983332596 cites W2137096226 @default.
- W2983332596 cites W2141865987 @default.
- W2983332596 cites W2144218405 @default.
- W2983332596 cites W2145856542 @default.
- W2983332596 cites W2147218086 @default.
- W2983332596 cites W2148617543 @default.
- W2983332596 cites W2149610558 @default.
- W2983332596 cites W2151157805 @default.
- W2983332596 cites W2158766159 @default.
- W2983332596 cites W2161379424 @default.
- W2983332596 cites W2161935988 @default.
- W2983332596 cites W2162462842 @default.
- W2983332596 cites W2162691442 @default.
- W2983332596 cites W2164628127 @default.
- W2983332596 cites W2165392132 @default.
- W2983332596 cites W2224418413 @default.
- W2983332596 cites W2442132286 @default.
- W2983332596 cites W2464900422 @default.
- W2983332596 cites W2491645136 @default.
- W2983332596 cites W2509895255 @default.
- W2983332596 cites W2560641002 @default.
- W2983332596 cites W2607083787 @default.
- W2983332596 cites W2734540391 @default.
- W2983332596 cites W2748371656 @default.
- W2983332596 cites W2753472685 @default.
- W2983332596 cites W2783075063 @default.
- W2983332596 cites W2796531147 @default.
- W2983332596 cites W2803480462 @default.
- W2983332596 cites W2803799714 @default.