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Erschienen in: Pediatric Nephrology 11/2015

01.11.2015 | Review

The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease

verfasst von: Judy Savige, Raymond Dalgleish, Richard GH Cotton, Johan T den Dunnen, Finlay Macrae, Sue Povey

Erschienen in: Pediatric Nephrology | Ausgabe 11/2015

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Abstract

A recent review identified 60 common inherited renal diseases caused by DNA variants in 132 different genes. These diseases can be diagnosed with DNA sequencing, but each gene probably also has a thousand normal variants. Many more normal variants have been characterised by individual laboratories than are reported in the literature or found in publicly accessible collections. At present, testing laboratories must assess each novel change they identify for pathogenicity, even when this has been done elsewhere previously, and the distinction between normal and disease-associated variants is particularly an issue with the recent surge in exomic sequencing and gene discovery projects. The Human Variome Project recommends the establishment of gene-specific DNA variant databases to facilitate the sharing of DNA variants and decisions about likely disease causation. Databases improve diagnostic accuracy and testing efficiency, and reduce costs. They also help with genotype–phenotype correlations and predictive algorithms. The Human Variome Project advocates databases that use standardised descriptions, are up-to-date, include clinical information and are freely available. Currently, the genes affected in the most common inherited renal diseases correspond to 350 different variant databases, many of which are incomplete or have insufficient clinical details for genotype–phenotype correlations. Assistance is needed from nephrologists to maximise the usefulness of these databases for the diagnosis and management of inherited renal disease.
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Metadaten
Titel
The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease
verfasst von
Judy Savige
Raymond Dalgleish
Richard GH Cotton
Johan T den Dunnen
Finlay Macrae
Sue Povey
Publikationsdatum
01.11.2015
Verlag
Springer Berlin Heidelberg
Erschienen in
Pediatric Nephrology / Ausgabe 11/2015
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-014-2994-1

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