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Identifier |
000463850 |
Title |
Analysis of whole exome sequencing data of patients with neurological and renal dosorders |
Alternative Title |
Ανάλυση δεδομένων αλληλούχισης ολικού εξώματος σε ασθενείς με νευρολογικές και νεφρολογικές παθήσεις |
Author
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Δράκος, Μηνάς Χρυσοβαλάντης
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Thesis advisor
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Ζαγανάς, Ιωάννης
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Reviewer
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Μήτσιας, Παναγιώτης
Στυλιανού, Κωνσταντίνος
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Abstract |
Today, more than 10,000 rare diseases affect over 300 million individuals worldwide, with 30 million in Europe. Unfortunately, even with a
diagnosis established, the average time for diagnosis is 5 to 6 years. Importantly, Next Generation Sequencing (NGS) has transformed the
diagnostic landscape, facilitating earlier and more accurate detection of rare diseases. Reanalyzing NGS data in patients with undiagnosed
Mendelian (monogenic) disorders is strongly recommended, as it typically leads to an overall yield of 10%, enabling the diagnosis of a significant
number of previously undiagnosed patients. The aim of this study was to re-analyze NGS data of patients with rare or undiagnosed diseases for
which the molecular cause has not been established. Specifically, we re-analyzed whole-exome sequencing (WES) data from 300 patients with
rare and undiagnosed diseases using the RD‐Connect Genome‐Phenome Analysis Platform (GPAP). The cohort, all Caucasians living in Greece,
exhibited heterogeneous clinical presentations, primarily within the neurological and developmental abnormality spectrum. Out of 300 patients,
82 received a positive genetic diagnosis, representing a diagnostic yield of 27.7%. Furthermore, we identified 25 previously unreported disease-
causing variants and 5 variants associated with the disease that had not been implicated until now. Our efforts resulted in genetically diagnosing
82 patients with rare diseases who were previously undiagnosed. We unveiled 25 novel disease-causing variants and associated 5 known variants
with a specific disease for the first time. Two exceptionally rare syndromes were also identified. Specifically, Verheij and White-Sutton syndromes,
conditions with only 56 patients and 80 cases described in the literature as of the time of writing.
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Language |
English |
Subject |
Neurology |
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Next generation sequencing |
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Precision medicine |
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Αλληλούχηση επόμενης γενιάς |
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Γενετική |
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Γονιδιωματική |
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Νευρολογία |
Issue date |
2024-04-17 |
Collection
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School/Department--School of Medicine--Department of Medicine--Post-graduate theses
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Type of Work--Post-graduate theses
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Permanent Link |
https://elocus.lib.uoc.gr//dlib/3/6/6/metadata-dlib-1712833902-89662-23534.tkl
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Views |
302 |
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