University Hospital Tuebingen
For the retrospective data analysis, patients with genetic diseases of any age and, if available, other family members, for whom genetic analyzes were carried out between 10/2016 and 12/2020, should be included. This equates to approximately 13,000 records, minus combined analyzes in the same patient, an estimated 12,000 individuals.
Rare Diseases
Genetic Predisposition
Retrospective data analysis
The methodological developments of the last few years allow the broad use of next-generation-sequencing (NGS) -based methods in the routine molecular genetic diagnosis of genetic diseases.The aim of the retrospective data analysis is to create a solid data basis for further discussion regarding the development and mapping of diagnostic algorithms and subsequent supply routes. For the genome data, this evaluation is to be expanded to include the evaluation of the Polygenic risk scores (PRSs) in the sense of an additional finding.
| Study Type : | OBSERVATIONAL |
| Estimated Enrollment : | 12000 participants |
| Official Title : | Diagnostic Value of Exome and Genome Sequencing as Well as Conventional Methods in Rare Diseases and Familial Tumor Syndromes |
| Actual Study Start Date : | 2021-02-18 |
| Estimated Primary Completion Date : | 2024-02 |
| Estimated Study Completion Date : | 2025-02 |
Information not available for Arms and Intervention/treatment
| Ages Eligible for Study: | |
| Sexes Eligible for Study: | ALL |
| Accepts Healthy Volunteers: |
Want to participate in this study, select a site at your convenience, send yourself email to get contact details and prescreening steps.
RECRUITING
University Hospital Tübingen
Tübingen, Germany, 72076