MARRVEL

MARRVEL aggregates genetic and genomic data from human and model organism databases to facilitate interpretation and functional annotation of human genetic variants.


Key Features:

  • Integration of Databases: Consolidates data from human databases OMIM, ExAC, ClinVar, Geno2MP, DGV, and DECIPHER together with data from seven model organism databases.
  • Model Organism Resources: Curates data for budding yeast, fission yeast, worm, fly, fish, mouse, and rat and summarizes human gene homologs across these species.
  • Experimental Data Presentation: Organizes experiment-based information on tissue expression, protein subcellular localization, biological processes, and molecular functions for genes and variants.

Scientific Applications:

  • Clinical interpretation and diagnosis: Facilitates clinical interpretation of human genetic variants by aggregating variant and gene data from multiple public databases.
  • Rare variant exploration and functional inference: Enables exploration of rare variants, comparative analysis across model organisms, and prediction of phenotypic outcomes based on integrated evidence.
  • Large-scale data integration: Supports cross-disciplinary analyses by integrating approximately 18 million records from public databases for comprehensive gene and variant analysis.

Methodology:

Aggregates and curates genetic information from human and model organism databases and links human genetic data with model organism studies.

Topics

Collections

Details

Tool Type:
web application
Added:
8/11/2018
Last Updated:
11/24/2024

Operations

Data Inputs & Outputs

Database search

Publications

Wang J, Al-Ouran R, Hu Y, Kim S, Wan Y, Wangler MF, Yamamoto S, Chao H, Comjean A, Mohr SE, Perrimon N, Liu Z, Bellen HJ, Adams CJ, Adams DR, Alejandro ME, Allard P, Ashley EA, Azamian MS, Bacino CA, Balasubramanyam A, Barseghyan H, Beggs AH, Bellen HJ, Bernstein JA, Bican A, Bick DP, Birch CL, Boone BE, Briere LC, Brown DM, Brush M, Burke EA, Burrage LC, Chao KR, Clark GD, Cogan JD, Cooper CM, Craigen WJ, Davids M, Dayal JG, Dell’Angelica EC, Dhar SU, Dipple KM, Donnell-Fink LA, Dorrani N, Dorset DC, Draper DD, Dries AM, Eckstein DJ, Emrick LT, Eng CM, Esteves C, Estwick T, Fisher PG, Frisby TS, Frost K, Gahl WA, Gartner V, Godfrey RA, Goheen M, Golas GA, Goldstein DB, Gordon MG, Gould SE, Gourdine JF, Graham BH, Groden CA, Gropman AL, Hackbarth ME, Haendel M, Hamid R, Hanchard NA, Handley LH, Hardee I, Herzog MR, Holm IA, Howerton EM, Jacob HJ, Jain M, Jiang Y, Johnston JM, Jones AL, Koehler AE, Koeller DM, Kohane IS, Kohler JN, Krasnewich DM, Krieg EL, Krier JB, Kyle JE, Lalani SR, Latham L, Latour YL, Lau CC, Lazar J, Lee BH, Lee H, Lee PR, Levy SE, Levy DJ, Lewis RA, Liebendorfer AP, Lincoln SA, Loomis CR, Loscalzo J, Maas RL, Macnamara EF, MacRae CA, Maduro VV, Malicdan MCV, Mamounas LA, Manolio TA, Markello TC, Mazur P, McCarty AJ, McConkie-Rosell A, McCray AT, Metz TO, Might M, Moretti PM, Mulvihill JJ, Murphy JL, Muzny DM, Nehrebecky ME, Nelson SF, Newberry JS, Newman JH, Nicholas SK, Novacic D, Orange JS, Pallais JC, Palmer CG, Papp JC, Pena LD, Phillips JA, Posey JE, Postlethwait JH, Potocki L, Pusey BN, Ramoni RB, Robertson AK, Rodan LH, Rosenfeld JA, Sadozai S, Schaffer KE, Schoch K, Schroeder MC, Scott DA, Sharma P, Shashi V, Silverman EK, Sinsheimer JS, Soldatos AG, Spillmann RC, Splinter K, Stoler JM, Stong N, Strong KA, Sullivan JA, Sweetser DA, Thomas SP, Tifft CJ, Tolman NJ, Toro C, Tran AA, Valivullah ZM, Vilain E, Waggott DM, Wahl CE, Walley NM, Walsh CA, Wangler MF, Warburton M, Ward PA, Waters KM, Webb-Robertson BM, Weech AA, Westerfield M, Wheeler MT, Wise AL, Wolfe LA, Worthey EA, Yamamoto S, Yang Y, Yu G, Zornio PA. MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. The American Journal of Human Genetics. 2017;100(6):843-853. doi:10.1016/j.ajhg.2017.04.010. PMID:28502612. PMCID:PMC5670038.

PMID: 28502612
PMCID: PMC5670038
Funding: - NINDS: 1U54NS093793-01 - NIH/ORIP: 1R24 OD022005-01 - NIH: 3U54NS093793-02S1, R01 GM120033, R24 OD021997, R24 RR032668, U01HG007709 - NSF: DMS 1263932 - CPRIT: RP170387 - NIH NIGMS: NIGMS R01 GM084947, R01 GM067761 - Dana Farber/Harvard Cancer Center: 5 P30 CA06516 - Simons Foundation: #368479

Documentation