ArticleBMC bioinformatics2011
CNV-WebStore: online CNV analysis, storage and interpretation.
Article in BMC bioinformatics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene.European journal of human genetics : EJHG · 2019Trial
- Can automated copy number variation pathogenicity prediction tools replace manual review under the ACMG framework? A clinical validation.Global medical genetics · 2026Article
- Generation of four distinct isogenic cell lines with truncating variants in I-band or A-band titin.Stem cell research · 2024Article
- IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC).Stem cell research · 2023Article
- IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type).Stem cell research · 2023Article
- Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutières Syndrome as an Example.Frontiers in neurology · 2021Article
- REDBot: Natural language process methods for clinical copy number variation reporting in prenatal and products of conception diagnosis.Molecular genetics & genomic medicine · 2020Article
- Terminal deletion of chromosome 13 in a fetus with normal NIPT: The added value of invasive prenatal diagnosis in the NIPT era.Clinical case reports · 2020Article
- Spectrum of Movement Disorders in 18p Deletion Syndrome.Movement disorders clinical practice · 2019Article
- A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome.European journal of medical genetics · 2018Article
- Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations.Clinical case reports · 2017Article
- Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome.European journal of human genetics : EJHG · 2016Article
- Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.American journal of human genetics · 2015Article
- The Role of Constitutional Copy Number Variants in Breast Cancer.Microarrays (Basel, Switzerland) · 2015Review
- Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.European journal of human genetics : EJHG · 2015Article
- Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.Human molecular genetics · 2015Article
- CNVannotator: a comprehensive annotation server for copy number variation in the human genome.PloS one · 2013Article
- The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.American journal of human genetics · 2012Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMicroarray technology allows the analysis of genomic aberrations at an ever increasing resolution, making functional interpretation of these vast amounts of data the main bottleneck in routine implementation of high resolution array platforms, and emphasising the need for a centralised and easy to use CNV data management and interpretation system.
resultsWe present CNV-WebStore, an online platform to streamline the processing and downstream interpretation of microarray data in a clinical context, tailored towards but not limited to the Illumina BeadArray platform. Provided analysis tools include CNV analsyis, parent of origin and uniparental disomy detection. Interpretation tools include data visualisation, gene prioritisation, automated PubMed searching, linking data to several genome browsers and annotation of CNVs based on several public databases. Finally a module is provided for uniform reporting of results.
conclusionCNV-WebStore is able to present copy number data in an intuitive way to both lab technicians and clinicians, making it a useful tool in daily clinical practice.
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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.