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NCT04731857 | RECRUITING | Rare Diseases


Diagnostic Value of Exome/ Genome Sequencing, Conventional Methods in Rare Diseases and Familial Tumor Syndromes
Sponsor:

University Hospital Tuebingen

Brief Summary:

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.

Condition or disease

Rare Diseases

Genetic Predisposition

Intervention/treatment

Retrospective data analysis

Detailed Description:

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:
Criteria
Inclusion Criteria
  • * Patient with genetic disease or
  • * Family members
  • * Genetic analysis between 10/2016 and 12/2020 at the Institute for Medical Genetics and Applied Genomics at the University Hospital Tübingen
Exclusion Criteria
  • - None

Diagnostic Value of Exome/ Genome Sequencing, Conventional Methods in Rare Diseases and Familial Tumor Syndromes

Location Details

NCT04731857


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Locations


RECRUITING

Germany,

University Hospital Tübingen

Tübingen, Germany, 72076

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