ArticleNucleic acids research2018
VarCards: an integrated genetic and clinical database for coding variants in the human genome.
Article in Nucleic acids research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 124 papers, 1 of them a synthesis that pooled it.
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Who cites it
124 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Computational resources associating diseases with genotypes, phenotypes and exposures.Briefings in bioinformatics · 2019Pooled it
- Expanding the ocular and genetic spectrum of FLVCR1-associated disease in a Chinese cohort.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Clinical and genetic spectrum of CASK-related disorders in Chinese patients.Journal of neurology · 2026Article
- Prenatal Diagnosis of Autosomal Recessive Primary Microcephaly Type 2 Caused by Compound Heterozygous WDR62 Variants in a Family With Two Recurrent Cases.Molecular genetics & genomic medicine · 2026Article
- The genetic spectrum of LRRK2 variants in Parkinson's disease: findings from a large Chinese cohort.NPJ Parkinson's disease · 2026Article
- Short tandem repeat expansions in patients with neurodegenerative dementia.EBioMedicine · 2026Article
- A novel de Novo KCNC1 mutation (c.1147 C > T) presenting with epilepsy and ADHD: a case report and literature review.BMC neurology · 2026Review
- Pathogenicity and Functional Analysis of Multi-Variant Allele of RPE65 Causing Retinitis Pigmentosa.Translational vision science & technology · 2026Article
- Mapping the Non-Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Detailed Comparison Between Two Main Phenotypes of CRB1-Related Retinal Dystrophy, Pan-retinopathy and Maculopathy.Investigative ophthalmology & visual science · 2025Article
- Characterization of the genetic and clinical landscapes of DCTN1 gene in neurodegenerative diseases: a series of large case-control study.NPJ genomic medicine · 2025Article
- A Novel TP63 Missense Mutation in the Sumoylation Motif Causes Isolated Split-Hand/Foot Malformation 4: A Pedigree Report and Literature Review.Molecular genetics & genomic medicine · 2025Review
- Seventeen-year follow-up of mitochondrial myopathy and ataxia in a Chinese family: case reports and literature review.Documenta ophthalmologica. Advances in ophthalmology · 2025Review
- Compound heterozygosity of a De novo 16q24.1 deletion and missense mutation in COX4I1 leads to developmental regression, intellectual disability, and seizures.Epilepsia open · 2025Article
- A Comprehensive Review of Deep Learning Applications with Multi-Omics Data in Cancer Research.Genes · 2025Review
- Excess of rare noncoding variants in several type 2 diabetes candidate genes among Asian Indian families.Communications medicine · 2025Article
- Genetic spectrum features and diagnostic accuracy of four plasma biomarkers in 248 Chinese patients with frontotemporal dementia.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- REEV: review, evaluate and explain variants.Nucleic acids research · 2024Article
- ProtVar: mapping and contextualizing human missense variation.Nucleic acids research · 2024Article
- Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension.JCI insight · 2024Article
64 more citing papers are in PubMed but not listed here.
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A growing number of genomic tools and databases were developed to facilitate the interpretation of genomic variants, particularly in coding regions. However, these tools are separately available in different online websites or databases, making it challenging for general clinicians, geneticists and biologists to obtain the first-hand information regarding some particular variants and genes of interest. Starting with coding regions and splice sties, we artificially generated all possible single nucleotide variants (n = 110 154 363) and cataloged all reported insertion and deletions (n = 1 223 370). We then annotated these variants with respect to functional consequences from more than 60 genomic data sources to develop a database, named VarCards (http://varcards.biols.ac.cn/), by which users can conveniently search, browse and annotate the variant- and gene-level implications of given variants, including the following information: (i) functional effects; (ii) functional consequences through different in silico algorithms; (iii) allele frequencies in different populations; (iv) disease- and phenotype-related knowledge; (v) general meaningful gene-level information; and (vi) drug-gene interactions. As a case study, we successfully employed VarCards in interpretation of de novo mutations in autism spectrum disorders. In conclusion, VarCards provides an intuitive interface of necessary information for researchers to prioritize candidate variations and genes.
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