ArticleNucleic acids research2022
VannoPortal: multiscale functional annotation of human genetic variants for interrogating molecular mechanism of traits and diseases.
Article in Nucleic acids research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
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Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genetic landscape and functional exploration of kidney cancer predisposition in cross-ancestral populations.Nature communications · 2026Pooled it
- Faster CYP2A6 increases COPD and lung cancer risk by increasing smoking quantity: a mediated mendelian randomization and observational mediation study.Respiratory research · 2026Observational
- Transformative Applications and Innovations in Next-Generation Sequencing Data Analysis.Journal of applied genetics · 2026Review
- Genetic variants in VEGF gene family enhance colorectal cancer susceptibility via modulating metabolic pathways.Archives of toxicology · 2026Article
- CircadianiScience · 2026Article
- Endogenous fine-mapping and prioritization of functional regulatory elements in complex genetic loci.Cell genomics · 2025Article
- Stratifying variant deleteriousness and trait-modulating effect under human recent adaptation using the FIND model.Genome biology · 2025Article
- Association Between Primary Dysmenorrhea and Mental Health Traits: A Study Based on Multi-Phenotype Correlation Network and Mendelian Randomization Analysis in Female College Students.Phenomics (Cham, Switzerland) · 2025Article
- Article
- Genome-wide association study of long COVID.Nature genetics · 2025Article
- Mineralocorticoid Receptor and Aldosterone: Interaction Between NR3C2 Genetic Variants, Sex, and Age in a Mixed Cohort.The Journal of clinical endocrinology and metabolism · 2024Article
- Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data.Human genomics · 2024Review
- A Genome-Wide Association Study Suggests New Susceptibility Loci for Primary Antiphospholipid Syndrome.Arthritis & rheumatology (Hoboken, N.J.) · 2024Article
- VCAT: an integrated variant function annotation tools.Human genetics · 2024Article
- A functional variant rs10409772 in FUT6 promoter regulates colorectal cancer progression through PKA/CREB signaling.Translational oncology · 2024Article
- Estimation of genetic variation in vitiligo associated genes: Population genomics perspective.BMC genomic data · 2024Article
- REEV: review, evaluate and explain variants.Nucleic acids research · 2024Article
- Association of NID2 SNPs with Glioma Risk and Prognosis in the Chinese Population.Neuromolecular medicine · 2024Article
- Identification of an novel genetic variant associated with osteoporosis: insights from the Taiwan Biobank Study.JBMR plus · 2024Article
- Novel genetic association of the Furin gene polymorphism rs1981458 with COVID-19 severity among Indian populations.Scientific reports · 2024Article
Corrections and comments
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Interpreting the molecular mechanism of genomic variations and their causal relationship with diseases/traits are important and challenging problems in the human genetic study. To provide comprehensive and context-specific variant annotations for biologists and clinicians, here, by systematically integrating over 4TB genomic/epigenomic profiles and frequently-used annotation databases from various biological domains, we develop a variant annotation database, called VannoPortal. In general, the database has following major features: (i) systematically integrates 40 genome-wide variant annotations and prediction scores regarding allele frequency, linkage disequilibrium, evolutionary signature, disease/trait association, tissue/cell type-specific epigenome, base-wise functional prediction, allelic imbalance and pathogenicity; (ii) equips with our recent novel index system and parallel random-sweep searching algorithms for efficient management of backend databases and information extraction; (iii) greatly expands context-dependent variant annotation to incorporate large-scale epigenomic maps and regulatory profiles (such as EpiMap) across over 33 tissue/cell types; (iv) compiles many genome-scale base-wise prediction scores for regulatory/pathogenic variant classification beyond protein-coding region; (v) enables fast retrieval and direct comparison of functional evidence among linked variants using highly interactive web panel in addition to plain table; (vi) introduces many visualization functions for more efficient identification and interpretation of functional variants in single web page. VannoPortal is freely available at http://mulinlab.org/vportal.
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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.