Other/Unknown Material
Enhancing the curation of variants of uncertain significance
| Τίτλος: | Enhancing the curation of variants of uncertain significance |
|---|---|
| Συγγραφείς: | Spiteri, Esther (2025) |
| Στοιχεία εκδότη: | University of Malta Centre of Molecular Medicine and Biobanking |
| Έτος έκδοσης: | 2025 |
| Συλλογή: | University of Malta: OAR@UM / L-Università ta' Malta |
| Θεματικοί όροι: | Genetics -- Malta, Human genetics -- Variation -- Malta, Patients -- Malta, Computer software -- Malta |
| Περιγραφή: | M.Sc.(Melit.) ; The increased demand for genetic sequencing has consequently led to a rise in the number of Variants of Uncertain Significance (VUS), which are classified as such due to insufficient evidence to determine their pathogenicity. These variants lead to incomplete diagnosis for patients, thus potentially causing anxiety and unease due to the uncertainty associated with VUS and may result in unnecessary treatments. The Laboratory of Molecular Pathology and Genetics, Pathology Department, Mater Dei Hospital, situated at the University of Malta, currently utilises software including VarSome and Franklin, to analyse genetic data and provide variant classifications based on the American College of Medical Genetics and Genomics (ACMG) guidelines. Any VUS identified through this analysis are recorded in Excel files which makes management and reclassification challenging. We developed a software, VUSVista, for organised and semi-automated VUS curation by offering ACMG criteria management, referencing of external databases like dbSNP and ClinVar, using standardised Human Phenotype Ontology (HPO) terms to describe sample phenotypes, and linking variants to pseudonymised samples. The absence of personal identifiers in the software safeguards patients’ privacy and makes it GDPR-compliant. VUSVista automatically checks for any updates to ClinVar’s germline classification entries for recorded VUS and searches for newly released publications referencing its VUS using LitVar 2.0. Users receive email notifications whenever a ClinVar entry is updated or a relevant publication is found, which enables them to stay informed about discoveries made by the scientific community. If significant evidence is obtained either from these discoveries or generated internally in the laboratory, users may reclassify the VUS using VUSVista. Our software maintains three audit trails for each of its recorded VUS: one representing any changes applied to the VUS, one for ClinVar update checks and one for publication checks. These audit ... |
| Τύπος εγγράφου: | other/unknown material |
| Γλώσσα: | English |
| Relation: | Spiteri, E. (2025). Enhancing the curation of variants of uncertain significance (Master's dissertation).; https://www.um.edu.mt/library/oar/handle/123456789/139237 |
| Διαθεσιμότητα: | https://www.um.edu.mt/library/oar/handle/123456789/139237 |
| Rights: | info:eu-repo/semantics/openAccess ; The copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder. |
| Αριθμός Καταχώρησης: | edsbas.B5C66D04 |
| Βάση Δεδομένων: | BASE |
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