ReviewPediatric nephrology (Berlin, Germany)2014
DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.
Review in Pediatric nephrology (Berlin, Germany), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 25 citations in OpenAlex.
- A review of genetic variant databases and machine learning tools for predicting the pathogenicity of breast cancer.Briefings in bioinformatics · 2023Review
- Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.Scientific reports · 2021Article
- A novel frameshift mutation of COL4A5 in a Chinese family with presumed IgA nephropathy and chronic glomerulonephritis.Journal of clinical laboratory analysis · 2020Article
- A novel missense mutation ofTranslational pediatrics · 2020Article
- Article
- HuVarBase: A human variant database with comprehensive information at gene and protein levels.PloS one · 2019Article
- Novel deletion mutation in a Chinese family with X-linked alport syndrome.International journal of clinical and experimental pathology · 2018Article
- Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine.Human mutation · 2016Article
- The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease.Pediatric nephrology (Berlin, Germany) · 2015Review
- Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease.BMC nephrology · 2014Article
- The 2014International Workshop on Alport Syndrome.Kidney international · 2014Article
- A Novel Mutation in a Japanese Family with X-linked Alport Syndrome.Internal medicine (Tokyo, Japan)Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 10 institutions in 6 countries.
Funding
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.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.