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

RECRUITINGSponsored by University Hospital Tuebingen
Actively Recruiting
SponsorUniversity Hospital Tuebingen
Started2021-02-18
Est. completion2026-02
Eligibility
Healthy vol.Accepted

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.

Eligibility

Healthy volunteers accepted
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

Conditions3

CancerGenetic PredispositionRare Diseases

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