Other names: marrvel
Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.
genetic variation data acquisition genetics rare diseases
FANTOM (Functional ANnoTation Of the Mammalian genome) is a worldwide collaborative project aiming at identifying all functional elements in mammalian genomes.
Genome Aggregation Database (gnomAD) - browser that aggregates exome and whole-genome sequencing data from a wide variety of large-scale sequencing projects. It enables search of genetic variation inf ...
Oligonucleotides for targeted resequencing of the human genome
Each LRG is stable genomic DNA sequence for a region of the human genome
A search engine for human genomic variants.
The European Variation Archive is an open-access archive that accepts submission of, and provides access to, all types of genetic variation data from all species. All users are able to download any da ...
The PReMod database describes more than 100,000 computational predicted transcriptional regulatory modules within the human genome. These modules represent the regulatory potential for 229 transcripti ...
Human Proteinpedia is a community portal for sharing and integration of human protein data. It allows research laboratories to contribute and maintain protein annotations.
Triplex Target DNA Sites in the human genome
The Human Genetic Variation Database (HGVD) aims to provide a central resource to archive and display Japanese genetic variation and association between the variation and transcription level of genes. ...
Database developed for functional prediction and annotation of all potential non-synonymous single-nucleotide variants (nsSNVs) and splice-site variants (ssSNVs) in the human genome. It also facilitat ...
The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease. Each term in the HPO describes a phenotypic abnormality, such as Atrial ...
Orphanet Rare Diseases Ontology (ORDO) provide a structured vocabulary for rare diseases capturing relationships between diseases, genes and other relevant features which will form a useful resource f ...
Structural Atlas of Human Genome
PhenoModifier is a genetic modifier database for elucidating the genetic basis of human phenotypic variation. PhenoModifier provides a more complete spectrum of genetic factors contributing to human p ...
The primary mission of the Alliance of Genome Resources (the Alliance) is to develop and maintain sustainable genome information resources that facilitate the use of diverse model organisms in underst ...
Databases for genetic resources and plant disease information
Emory Genetics Laboratory's (EGL) Variant Classification Catalog contains variants of the gene of interest that has been seen and analysed by EGL Genetics.
The Genetics Home Reference is designed for patients and others to learn about specific genetic conditions and the genes that cause them. While the research results from the Human Genome Project are i ...
Provides simple-to-use REST web services to query/retrieve variant annotation data, aggregated from many popular data resources.