AboutMore about MARRVEL

Wang J, Al-Ouran R, Hu Y, Kim SY, Wan YW, Wangler MF, Yamamoto S, Chao HT, UDN Consortium, Comjean A, Mohr SE, Perrimon N, Liu Z, Bellen HJ (2017) MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome. American Journal of Human Genetics. doi:10.1016/j.ajhg.2017年04月01日0 PMID:28502612

Multiple public variant databases exist where each database is studying a different cohort and providing different types of output. MARRVEL(Model organism Aggregated Resources for Rare Variant ExpLoration) allows users to search multiple public variant databases simultaneously and provides a unified interface to facilitate the search process.

With Support From:

Searchable databasesMore about data

ExAC Provides a control population frequency of variants (60,706 exomes). Cohorts are selected to exclude severe pediatric diseases.

gnomAD Provides a control population frequency of variants (123,136 exomes and 15,496 genomes). Cohorts are selected to exclude severe pediatric diseases.

IMPC Phenotype of knockout mouse lines.

Monarch Phenotype-genotype correlation across species.

Geno2MP Cohort of 5,000 affected, as well as related but unaffected, individuals from Mendelian Genomics projects with limited phenotypic information.

OMIM Online Mendelian Inheritance in Man. An Online Catalog of Human Genes and Genetic Disorders.

DGV Database of genomic variants. A curated catalogue of human genomic structural variation.

DECIPHER (Control) Common copy-number variants and their frequencies

ClinVar Public archive of reports of the relationships among human variations and phenotypes, with supporting evidence.

QuickGO Gene Ontology terms and annotations

ProteinAtlas Protein (and gene/mRNA) expression database.

GTEx Gene (mRNA) expression database

DIOPT Integrated ortholog prediction tool (human ⇋ model organisms)

SGD Budding yeast (Saccharomyces cerevisiae)

PomBase Fission yeast (Schizosaccharomyces pombe)

WormBase Nematode worm (Caenorhabditis elegans)

FlyBase Fruit fly (Drosophila melanogaster)

ZFIN Zebrafish (Danio rerio)

MGI Mouse (Mus musculus)

RGD Rat (Rattus norvegicus)

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