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Updated: Sep 2, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[ZSE-DUO - dual guidance structure at the centre for rare diseases]
C Schippers1, D Volk2, M de Zwaan3
1Zentrum für Seltene Erkrankungen, Universitätsklinikum, RWTH Aachen, Bahnhofstr. 18, 52064, Aachen, Deutschland. cschippers@ukaachen.de.
Background:
Patients with an unclear diagnosis and suspected rare disease pose special challenges to physicians, among others.
Aim Of The Study (Research Question):
The ZSE-DUO project aims to establish whether patient care under the joint supervision of a somatic expert and a mental health expert can improve diagnostic efficacy and precision, as well as shorten the time to diagnosis.
Material And Methods:
ZSE-DUO has successfully recruited more than 1000 patients at eleven national centres for rare diseases in a control and an intervention group. The findings are being analysed by three evaluating institutions.
Results And Discussion:
The study is currently in its final phase. The results will be published in further papers.
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