DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome
dc.contributor.author | Savige, J. | en |
dc.contributor.author | Ars, E. | en |
dc.contributor.author | Cotton, R. G. H. | en |
dc.contributor.author | Crockett, D. | en |
dc.contributor.author | Dagher, H. | en |
dc.contributor.author | Constantinou-Deltas, Constantinos D. | en |
dc.contributor.author | Ding, J. | en |
dc.contributor.author | Flinter, F. | en |
dc.contributor.author | Pont-Kingdon, G. | en |
dc.contributor.author | Smaoui, N. | en |
dc.contributor.author | Torra, R. | en |
dc.contributor.author | Storey, H. | en |
dc.creator | Savige, J. | en |
dc.creator | Ars, E. | en |
dc.creator | Cotton, R. G. H. | en |
dc.creator | Crockett, D. | en |
dc.creator | Dagher, H. | en |
dc.creator | Constantinou-Deltas, Constantinos D. | en |
dc.creator | Ding, J. | en |
dc.creator | Flinter, F. | en |
dc.creator | Pont-Kingdon, G. | en |
dc.creator | Smaoui, N. | en |
dc.creator | Torra, R. | en |
dc.creator | Storey, H. | en |
dc.date.accessioned | 2019-11-04T12:52:37Z | |
dc.date.available | 2019-11-04T12:52:37Z | |
dc.date.issued | 2014 | |
dc.identifier.issn | 0931-041X | |
dc.identifier.uri | http://gnosis.library.ucy.ac.cy/handle/7/53367 | |
dc.description.abstract | X-linked Alport syndrome is a form of progressive renal failure caused by pathogenic variants in the COL4A5 gene. More than 700 variants have been described and a further 400 are estimated to be known to individual laboratories but are unpublished. The major genetic testing laboratories for X-linked Alport syndrome worldwide have established a Web-based database for published and unpublished COL4A5 variants ( https://grenada.lumc.nl/LOVD2/COL4A/home.php? select-db=COL4A5 ). This conforms with the recommendations of the Human Variome Project: it uses the Leiden Open Variation Database (LOVD) format, describes variants according to the human reference sequence with standardized nomenclature, indicates likely pathogenicity and associated clinical features, and credits the submitting laboratory. The database includes non-pathogenic and recurrent variants, and is linked to another COL4A5 mutation database and relevant bioinformatics sites. Access is free. Increasing the number of COL4A5 variants in the public domain helps patients, diagnostic laboratories, clinicians, and researchers. The database improves the accuracy and efficiency of genetic testing because its variants are already categorized for pathogenicity. The description of further COL4A5 variants and clinical associations will improve our ability to predict phenotype and our understanding of collagen IV biochemistry. The database for X-linked Alport syndrome represents a model for databases in other inherited renal diseases. © 2013 IPNA. | en |
dc.source | Pediatric Nephrology | en |
dc.source.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84901605832&doi=10.1007%2fs00467-013-2486-8&partnerID=40&md5=e4f6156cd03562312c1e1da623470247 | |
dc.subject | human | en |
dc.subject | Humans | en |
dc.subject | priority journal | en |
dc.subject | review | en |
dc.subject | gene | en |
dc.subject | amino acid sequence | en |
dc.subject | unclassified drug | en |
dc.subject | disease severity | en |
dc.subject | phenotype | en |
dc.subject | genomics | en |
dc.subject | genetics | en |
dc.subject | DNA | en |
dc.subject | gene mutation | en |
dc.subject | pathogenicity | en |
dc.subject | collagen type 4 | en |
dc.subject | cell interaction | en |
dc.subject | kidney failure | en |
dc.subject | genetic variability | en |
dc.subject | genetic screening | en |
dc.subject | Collagen Type IV | en |
dc.subject | bioinformatics | en |
dc.subject | osteogenesis imperfecta | en |
dc.subject | missense mutation | en |
dc.subject | Alport syndrome | en |
dc.subject | focal glomerulosclerosis | en |
dc.subject | Nephritis, Hereditary | en |
dc.subject | COL4A5 protein, human | en |
dc.subject | nephritis | en |
dc.subject | genotype phenotype correlation | en |
dc.subject | genetic database | en |
dc.subject | stop codon | en |
dc.subject | COL4A5 gene | en |
dc.subject | X chromosome linked disorder | en |
dc.subject | collagen type 4A5 | en |
dc.subject | Databases, Nucleic Acid | en |
dc.subject | DNA database | en |
dc.subject | fibrocystin | en |
dc.subject | Gene variant | en |
dc.subject | Genetic testing | en |
dc.subject | human variome project | en |
dc.subject | Inherited renal disease | en |
dc.subject | nucleic acid database | en |
dc.subject | X chromosome inactivation | en |
dc.title | DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome | en |
dc.type | info:eu-repo/semantics/article | |
dc.identifier.doi | 10.1007/s00467-013-2486-8 | |
dc.description.volume | 29 | |
dc.description.startingpage | 971 | |
dc.description.endingpage | 977 | |
dc.author.faculty | Σχολή Θετικών και Εφαρμοσμένων Επιστημών / Faculty of Pure and Applied Sciences | |
dc.author.department | Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences | |
dc.type.uhtype | Article | en |
dc.description.notes | <p>Cited By :7</p> | en |
dc.source.abbreviation | Pediatr.Nephrol. | en |
dc.contributor.orcid | Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169] | |
dc.gnosis.orcid | 0000-0001-5549-9169 |
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