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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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The Neuroimage Study of the Neuromuscular Disorders. N/A The neuromuscular disorders could be briefly divided to neuropathy, myopath...
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National Taiwan Univeristy Hospital
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N-Care Project: Enhancing Asian-Pacific Collaboration N/A Through Asian-Pacific multinational collaboration, we aim to utilize third-...
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National Taiwan University Hospital
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Advancing Neurogenetic Diagnoses Through Long-Read Sequencing NA Nucleotide repeats emerge as one of the most prolific classes of genetic va...
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CHU Bordeaux - Hôpital Pellegrin
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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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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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PREcision Diagnostics in Rare genetIC Diseases and Tumors - Long Read Sequencing N/A Using long-read sequencing (LRS) technology to achieve molecular diagnosis ...
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IRCCS Azienda Ospedaliero-Universitaria di Bologna
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Implementation of Long-read Sequencing for the Diagnosis of Rare Diseases. N/A Following on from the third national plan for rare diseases (PNMR3), the ma...
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CHU Bordeaux - Hôpital Pellegrin
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Ultra Rapid GEnome Sequencing N/A Next-generation sequencing (NGS) has revolutionized the field of genomics, ...
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Mapping of Genomic Structural Variations in Major Birth Defects N/A In the context of intricate cases with ambiguous prenatal genetic diagnoses...
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Multiple Locations
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