Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read Genomics

Whole Genome Trio Sequencing as a Standard Routine Test in Patients With Rare Diseases - "GENOME FIRST APPROACH"

NCT03954652 ·Status: COMPLETED ·Phase: NA

Rare and Undiagnosed Disease Research Biorepository

NCT04703179 ·Status: ENROLLING_BY_INVITATION

Identification of the Genetic Causes of Rare Diseases With Negative Exome Findings

NCT04315727 ·Status: RECRUITING ·Phase: NA

Establishment of Reproductive Cohort and Prediction Model of Genetic Counseling for Mitochondrial Genetic Diseases

NCT06450964 ·Status: ENROLLING_BY_INVITATION

Identification of New Candidate Genes in Patients With Mitochondrial Disease by High Resolution Chromosome Analysis on DNA Chip

NCT03857880 ·Status: COMPLETED

Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare Diseases

NCT02588638 ·Status: UNKNOWN

Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power

NCT04152876 ·Status: UNKNOWN

Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders

NCT04399694 ·Status: COMPLETED

Initiative for Clinical Long-read Sequencing

NCT06060184 ·Status: NOT_YET_RECRUITING ·Phase: NA

Genetic Causes of Discrepant Clinic in Monogenic Twins

NCT04046796 ·Status: RECRUITING

Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder

NCT03829176 ·Status: COMPLETED ·Phase: NA

Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN

NCT05499091 ·Status: RECRUITING ·Phase: NA

Genetic Analysis of Uncommon Disease Presentations in Non-US Populations

NCT06595940 ·Status: RECRUITING

Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network

NCT02450851 ·Status: RECRUITING

Inherited Reproductive Disorders

NCT01500447 ·Status: RECRUITING

Genomic Profiling of Genetic and Rare Diseases

NCT06926127 ·Status: RECRUITING ·Phase: NA

Study of Clinical and Molecular Manifestations of Genetic Disorders

NCT00001466 ·Status: COMPLETED

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

NCT04731857 ·Status: RECRUITING

Genome Medical Sequencing for Gene Discovery

NCT01087320 ·Status: RECRUITING

Developing a Pipeline to Employ RNA-Seq as a Complementary Diagnostic Tool in Rare Diseases

NCT05996731 ·Status: RECRUITING ·Phase: NA

Natural History Study - Mitochondrial Disease

NCT01532791 ·Status: RECRUITING

Characterization and Contribution of Genome-wide DNA Methylation (DNA Methylation Episignatures) in Rare Diseases With Prenatal Onset

NCT06475651 ·Status: RECRUITING

Diagnostic Research in Patients With Rare Diseases -Solving the Unsolved Rare Diseases

NCT04024774 ·Status: RECRUITING

A Pilot Project Exploring the Impact of Whole Genome Sequencing in Healthcare

NCT01736566 ·Status: COMPLETED ·Phase: NA

Decoding the Genetic Landscape of Skeletal Diseases

NCT05876416 ·Status: RECRUITING