Found 17 matching trials
Prospective Study to Assess Medical Performance of Optical Mapping and Long Read Sequencing in Detecting Numerical and Structural Chromosome Abnormalities NA Chromosomal aberrations are major causes of developmental disorders (Intell...
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Utilizing Long-read Sequencing to Investigate the EGFR Landscape of EGFR Positive Lung Cancer Patients N/A EGFR gene mutations are some of the most commonly occurring mutations in no...
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Our Lady of the Lake Regional Medical Center
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Ultra Rapid GEnome Sequencing N/A Next-generation sequencing (NGS) has revolutionized the field of genomics, ...
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Precision Diagnosis and Therapy for Rare Diseases by Interpreting Non-coding Genomes N/A PARADIGM study, funded by the PNRR research grant, will focus on Eye Diseas...
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IRCCS Azienda Ospedaliero-Universitaria di Bologna
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UW Undiagnosed Genetic Diseases Program N/A The primary purpose of this study is to discover new disease genes for rare...
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University of Wisconsin School of Medicine and Public Health
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Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read Genomics NA The MiDiSeq project will enroll 20 unresolved index patients with suspected...
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University Hospital Tübingen
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Developmental and Epileptic Encephalopathies Diagnosed Via Long-read Genome Sequencing N/A This study focuses on children with Developmental and Epileptic Encephalopa...
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Initiative for Clinical Long-read Sequencing NA The study aims to comprehensively introduce Long-read Genome sequencing (LR...
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University Hospital Tübingen
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A Registered Observational Cohort Study of Myotonic Dystrophy Type 1 N/A Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrop...
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Enrolling By Invitation
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First Affiliated Hospital of Fujian Medical University
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The Benefits of Long-read High-throughput Genomic Sequencing for the Causal Diagnosis of Cerebellar Ataxias NA Cerebellar ataxias are a group of rare neurological disorders that are clin...
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Chu Dijon Bourgogne
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