GWAS Central (previously the Human Genome Variation database of Genotype-to-Phenotype information) is a database of summary level findings from genetic association studies, both large and small. We actively gather datasets from public domain projects, and encourage direct data submission from the community. GWAS Central is built upon a basal layer of Markers that comprises all known SNPs and other variants from public databases such as dbSNP and the DBGV. Allele and genotype frequency data, plus genetic association significance findings, are added on top of the Marker data, and organised the same way that investigations are reported in typical journal manuscripts. Critically, no individual level genotypes or phenotypes are presented in GWAS Central – only group level aggregated (summary level) data. The largest unit in a data submission is a Study, which can be thought of as being equivalent to one journal article. This may contain one or more Experiments, one or more Sample Panels of test subjects, and one or more Phenotypes. Sample Panels may be characterised in terms of various Phenotypes, and they also may be combined and/or split into Assayed Panels. The Assayed Panels are used as the basis for reporting allele/genotype frequencies (in `Genotype Experiments`) and/or genetic association findings (in ‘Analysis Experiments’). Environmental factors are handled as part of the Sample Panel and Assayed Panel data structures. ... [Information of the supplier]
H-DBAS is a unique database of alternative splicing (AS) based on H-InvDB. The features of H-DBAS is as follows: 1) Representative AS variants (RASVs) were identified from 8 data sets consist of 6 mammalian model organisms (human, mouse, rat, chimpanzee, macaque and dog). The contents of data sets and the corresponding species are as follows: Full-length cDNA data set, mRNA data set, RNA data set 2) Equally-spliced variants (ESVs) were identified from RASVs between human and mouse, rat, chimpanzee, macaque and dog by using comparative genomics. Splice sites and splice motifs affecting SNPs can be observed in human. 3) RASVs affecting protein functions (protein motif, GO, subcellular localization signal and transmembrane domain) can be observed in human. 4) AS junctions expressed in specified cellular fractions (cytoplasm, nuclear and polysome) of human cell were detected by using RNA-Seq tags. The translation validation of the variants having AS junctions were analyzed by compared with RefSeq junctions. The results are shown from RNA-Seq analysis page. ... [Information of the supplier]
The HuGE Literature Finder is one component of the HuGE Navigator, an integrated, searchable knowledge base of genetic associations and related information in human genome epidemiology. In 2001, HuGENet launched the HuGE Published Literature database (HuGE Pub Lit), a continually updated and accessible knowledge base on the World Wide Web that tracks the growing published literature of human genome epidemiologic studies. HuGE Pub Lit offers a starting point for assembling articles for meta-analysis, highlighting research gaps, suggesting applied research questions, and identifying potential collaborators. HuGE Pub Lit contains links to abstracts on PubMed that meet the inclusion and exclusion criteria (see below). HuGENet research staff is responsible for extracting relevant articles from PubMed and entering them into the HuGE Pub Lit database on a weekly basis. Since June 2007, a new automatic HuGE literature screening – GAPscreener was implemented to assist the weekly HuGE literature scanning from PubMed. The sensitivity of HuGE literature screening performance can reach 97.5%. An average of 500 new articles per week is retrieved by GAPscreener. A researcher who is familiar with the eligibility criteria for human genome epidemiology then reviews each title and abstract (or in a few cases, the full text). This researcher decides whether the study will be included in the database and, if it will, assigns indexing for each article. HuGE Literature Finder is a newly-designed HuGE Pub Lit database that utilizes the Unified Medical Language System (UMLS) as an indexing mechanism. ... [Information of the supplier]
