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Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.

Nicole WeisschuhPascale MazzolaTheresia ZulegerKarin SchaeferhoffLaura KühleweinFriederike KortümDennis WittAlexandra LiebmannRuth FalbLisa PohlMilda ReithLara G StühnMiriam BertrandAmelie MüllerNicolas CasadeiOlga KelemenCarina KelbschChristoph KernstockPaul RichterFrancoise SadlerGerman DemidovLeon SchützJakob AdmardMarc SturmUte GrasshoffFelix TonagelTilman HeinrichFadi NasserBernd WissingerStephan OssowskiSusanne KohlOlaf RiessKatarina StinglTobias B Haack
Published in: Journal of medical genetics (2023)
GS is feasible in clinical practice and reliably identifies causal variants in a substantial proportion of individuals. GS extends the diagnostic yield to rare non-coding variants and enables precise determination of SVs. The added diagnostic value of RNA-seq is limited by low expression levels of the major IRD disease genes in blood.
Keyphrases
  • rna seq
  • single cell
  • genome wide
  • clinical practice
  • copy number
  • poor prognosis
  • mass spectrometry
  • high resolution
  • transcription factor
  • simultaneous determination