ArticleNucleic acids research2014
InvFEST, a database integrating information of polymorphic inversions in the human genome.
Article in Nucleic acids research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 63 citations in OpenAlex.
- Detailed stratified GWAS analysis for severe COVID-19 in four European populations.Human molecular genetics · 2022Pooled it
- Resolving missing human polymorphic inversions and other complex variants from ultralong read data.Genome research · 2026Article
- The Length of Haplotype Blocks and Signals of Structural Variation in Reconstructed Genealogies.Molecular biology and evolution · 2025Article
- Detection and functional assessment of structural variants using whole-genome re-sequencing data in Nellore cattle.Scientific reports · 2025Article
- Chromosomal inversion polymorphisms shape human brain morphology.Cell reports · 2023Article
- The early-life exposome modulates the effect of polymorphic inversions on DNA methylation.Communications biology · 2022Article
- Frequency and clinical significance of chromosomal inversions prenatally diagnosed by second trimester amniocentesis.Scientific reports · 2022Article
- InvertypeR: Bayesian inversion genotyping with Strand-seq data.BMC genomics · 2021Article
- Identifying chromosomal subpopulations based on their recombination histories advances the study of the genetic basis of phenotypic traits.Genome research · 2020Article
- Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population.Journal of human genetics · 2020Article
- Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR.Genome research · 2020Article
- The molecular genealogy of sequential overlapping inversions implies both homologous chromosomes of a heterokaryotype in an inversion origin.Scientific reports · 2019Article
- Evolutionary and functional impact of common polymorphic inversions in the human genome.Nature communications · 2019Article
- PopHumanScan: the online catalog of human genome adaptation.Nucleic acids research · 2019Article
- Systematics for types and effects of DNA variations.BMC genomics · 2018Review
- npInv: accurate detection and genotyping of inversions using long read sub-alignment.BMC bioinformatics · 2018Article
- Global genetic differentiation of complex traits shaped by natural selection in humans.Nature communications · 2018Article
- Identification of large rearrangements in cancer genomes with barcode linked reads.Nucleic acids research · 2018Article
- Inversion evolutionary rates might limit the experimental identification of inversion breakpoints in non-model species.Scientific reports · 2017Article
- Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.American journal of human genetics · 2017Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
The newest genomic advances have uncovered an unprecedented degree of structural variation throughout genomes, with great amounts of data accumulating rapidly. Here we introduce InvFEST (http://invfestdb.uab.cat), a database combining multiple sources of information to generate a complete catalogue of non-redundant human polymorphic inversions. Due to the complexity of this type of changes and the underlying high false-positive discovery rate, it is necessary to integrate all the available data to get a reliable estimate of the real number of inversions. InvFEST automatically merges predictions into different inversions, refines the breakpoint locations, and finds associations with genes and segmental duplications. In addition, it includes data on experimental validation, population frequency, functional effects and evolutionary history. All this information is readily accessible through a complete and user-friendly web report for each inversion. In its current version, InvFEST combines information from 34 different studies and contains 1092 candidate inversions, which are categorized based on internal scores and manual curation. Therefore, InvFEST aims to represent the most reliable set of human inversions and become a central repository to share information, guide future studies and contribute to the analysis of the functional and evolutionary impact of inversions on the human genome.
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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.