ArticleNature protocols2015
Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR.
Article in Nature protocols, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06559670 (Prevention of Chronic Lung Disease), which is not on this map. Cited by 540 papers, 2 of them syntheses that pooled it.
What it found
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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.
Prevention of Chronic Lung Disease: New High Risk Profile for Early Detection and Management Starting From Perinatal Life (CLD - Prevention Study)
Who cites it
540 citing papers in PubMed, 2 syntheses or guidelines pooled it.
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- Whole-Genome and Transcriptome Sequencing Identified NOTCH2 and HES1 as Potential Markers of Response to Imatinib in Desmoid Tumor (Aggressive Fibromatosis): A Phase II Trial Study.Cancer research and treatment · 2022Trial
- SNPannotator: automated functional annotation of genetic variants and linked proxies.Bioinformatics (Oxford, England) · 2026Article
- A de novo NR2F1 c.330 C > A variant in Bosch-Boonstra-Schaaf optic atrophy syndrome presenting with early-onset developmental and epileptic encephalopathy.Molecular biology reports · 2026Article
- Ex Vivo Tumor-Derived Organoid Pharmacotyping Identifies Personalized Therapeutic Options for Patients with Biliary Tract Cancer.Cancer research communications · 2026Article
- Development of InDel-Based Identification Methods for Wild and Domesticated Populations: A Case Study ofAnimals : an open access journal from MDPI · 2026Article
- Congenital myasthenic syndromes in a Southeast Asian adult neurology clinic: a long road to diagnosis and therapy.BMC neurology · 2026Article
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- Transcriptome analysis in osteoarthritis primary tissues identifies high-confidence effector genes.Nature communications · 2026Article
- Genome-Wide Association Study Reveals Genetic Loci Associated with Body Measurement Traits in Yanqi Horses.Animals : an open access journal from MDPI · 2026Article
- Genome-wide association analysis identifies the genetic basis of body size traits in Tan sheep (Ovis aries).BMC genomics · 2026Article
- Identification of gene variants in 30 patients from southeastern China with severe hypospadias by whole-exome sequencing.Asian journal of andrology · 2026Article
- B-cell lymphocytosis and reprogramming due to biallelic CARD11 mutations.The Journal of allergy and clinical immunology · 2026Article
- Genome-wide association analysis of treatment response to onabotulinumtoxinA in Han Chinese patients with chronic migraine: a pilot study.BMC neurology · 2026Article
- Mutation mapping and functional characterization of a missense mutation p.Arg228Cys in ALDH3A2 gene causing Sjögran-Larson syndrome.Molecular biology reports · 2026Article
- The genetic spectrum of LRRK2 variants in Parkinson's disease: findings from a large Chinese cohort.NPJ Parkinson's disease · 2026Article
- Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries.Molecular genetics and metabolism reports · 2026Article
- Article
480 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
Recent developments in sequencing techniques have enabled rapid and high-throughput generation of sequence data, democratizing the ability to compile information on large amounts of genetic variations in individual laboratories. However, there is a growing gap between the generation of raw sequencing data and the extraction of meaningful biological information. Here, we describe a protocol to use the ANNOVAR (ANNOtate VARiation) software to facilitate fast and easy variant annotations, including gene-based, region-based and filter-based annotations on a variant call format (VCF) file generated from human genomes. We further describe a protocol for gene-based annotation of a newly sequenced nonhuman species. Finally, we describe how to use a user-friendly and easily accessible web server called wANNOVAR to prioritize candidate genes for a Mendelian disease. The variant annotation protocols take 5-30 min of computer time, depending on the size of the variant file, and 5-10 min of hands-on time. In summary, through the command-line tool and the web server, these protocols provide a convenient means to analyze genetic variants generated in humans and other species.
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