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 HaackPublished 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.