Databases of genetic variation are important for our understanding of human population history and biology but also provide critical resources for the clinical interpretation of variants observed in patients who have rare Mendelian diseases. The filtering of candidate variants by frequency in unselected individuals is a key step in any pipeline for the discovery of causal variants in Mendelian disease patients, and the efficacy of such filtering depends on both the size and the ancestral diversity of the available reference data.
Provides information about Trypanosomatidae. Tritrypdb is a collective database which intends to gather annotation, curation and access to tools enabling sophisticated queries against genomic scale datasets. Users can select more than 80 different searches against the TriTryp genomes and datasets and combine them in an integrated and graphical manner. All searches can be customized, summarized by species and displayed as an interactive gene list.
A benchmark database suite comprising variation datasets that can be used for developing and testing the performance of variant effect prediction tools. VariSNP contains datasets selected from dbSNP which were filtered for disease-related variants found in ClinVar, Swiss-Prot and PhenCode, so all variations are considered neutral/non-pathogenic. The datasets are categorized according to the functional classes used in dbSNP.
Provides a blueprint for large-scale precision medicine initiatives and genomics-guided therapeutic discovery. DiscovEHR is a browser which contains variant frequency data to enable allele frequency comparisons with other population-based and biobank resources. The ability to search by gene, rs#, and position is also available. The DiscovEHR collaboration study cohort is derived from individuals who consented to participate in Geisinger’s MyCode Community Health Initiative.
Contains information from six human genetic databases and seven model organism databases. MARRVEL is able to provide a concise summary regarding the human gene homologs in budding and fission yeast, worm, fly, fish, mouse, and rat. It facilitates analysis of human genes and variants. The database facilitates clinical diagnosis and basic research by integrating 18 million records available in public databases.
A WGS imputation panel comprising 3,781 samples from the UK10K Cohorts project. This project has generated a data set of 3,781 whole genomes sequenced at low depth aiming to exhaustively characterize genetic variation down to 0.1% minor allele frequency in the British population. The UK10K project will enable researchers in the UK and beyond to better understand the link between low-frequency and rare genetic changes, and human disease caused by harmful changes to the proteins the body makes.
Handles copy number variation (CNV) data. CNV DB is a resource that includes information about CNV region data and also results concerning research laboratory. The online platform offers several research modes: (1) CNV keyword search; (2) list of whole genome; (3) region search; and (4) a genome browser.