@article{f4587482fb244dcd80c2409befebe1be,
title = "MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome",
abstract = "One major challenge encountered with interpreting human genetic variants is the limited understanding of the functional impact of genetic alterations on biological processes. Furthermore, there remains an unmet demand for an efficient survey of the wealth of information on human homologs in model organisms across numerous databases. To efficiently assess the large volume of publically available information, it is important to provide a concise summary of the most relevant information in a rapid user-friendly format. To this end, we created MARRVEL (model organism aggregated resources for rare variant exploration). MARRVEL is a publicly available website that integrates information from six human genetic databases and seven model organism databases. For any given variant or gene, MARRVEL displays information from OMIM, ExAC, ClinVar, Geno2MP, DGV, and DECIPHER. Importantly, it curates model organism-specific databases to concurrently display a concise summary regarding the human gene homologs in budding and fission yeast, worm, fly, fish, mouse, and rat on a single webpage. Experiment-based information on tissue expression, protein subcellular localization, biological process, and molecular function for the human gene and homologs in the seven model organisms are arranged into a concise output. Hence, rather than visiting multiple separate databases for variant and gene analysis, users can obtain important information by searching once through MARRVEL. Altogether, MARRVEL dramatically improves efficiency and accessibility to data collection and facilitates analysis of human genes and variants by cross-disciplinary integration of 18 million records available in public databases to facilitate clinical diagnosis and basic research.",
keywords = "ClinVar, Diopt, ExAC, FlyBase, Geno2MP, MGI, Zfin, genetic diseases, rare diseases, variants of unknown significance",
author = "UDN and Julia Wang and Rami Al-Ouran and Yanhui Hu and Kim, {Seon Young} and Wan, {Ying Wooi} and Wangler, {Michael F.} and Shinya Yamamoto and Chao, {Hsiao Tuan} and Aram Comjean and Mohr, {Stephanie E.} and Adams, {Christopher J.} and Adams, {David R.} and Alejandro, {Mercedes E.} and Patrick Allard and Ashley, {Euan A.} and Azamian, {Mashid S.} and Bacino, {Carlos A.} and Ashok Balasubramanyam and Hayk Barseghyan and Beggs, {Alan H.} and Bellen, {Hugo J.} and Bernstein, {Jonathan A.} and Anna Bican and Bick, {David P.} and Birch, {Camille L.} and Boone, {Braden E.} and Briere, {Lauren C.} and Brown, {Donna M.} and Matthew Brush and Burke, {Elizabeth A.} and Burrage, {Lindsay C.} and Chao, {Katherine R.} and Clark, {Gary D.} and Cogan, {Joy D.} and Cooper, {Cynthia M.} and Craigen, {William J.} and Mariska Davids and Dayal, {Jyoti G.} and Dell'Angelica, {Esteban C.} and Dhar, {Shweta U.} and Dipple, {Katrina M.} and Donnell-Fink, {Laurel A.} and Naghmeh Dorrani and Dorset, {Daniel C.} and Draper, {David D.} and Dries, {Annika M.} and Eckstein, {David J.} and Emrick, {Lisa T.} and Melissa Haendel and Koeller, {David M.}",
note = "Funding Information: We thank the Undiagnosed Diseases Network Model Organism Working Group and Coordinating Center, Jim Lupski, Zeynep Akdemir, Ender Karaca, John Seavitt, George Eisenhoffer, Swathi Arur, Grzegorz Ira, and Karen Schulze for providing input in the design of MARRVEL. We thank Wan Hee Yoon for providing input in the manuscript. This work was supported by the NINDS (1U54NS093793-01) to the Model Organisms Screening Center of the UDN and NIH/ORIP (1R24 OD022005-01). J.W. is supported by The Robert and Janice McNair Foundation McNair MD/PhD Student Scholar Program and Baylor College of Medicine Medical Scientist Training Program. H.J.B. and N.P. are Investigators of the Howard Hughes Medical Institute. S.-Y.K., S.Y., M.F.W., and H.J.B. are supported by NIH (3U54NS093793-02S1). H.J.B. is supported by NIH (R01 GM067858). Z.L., R.A.-O., and W.-W.W. are supported by NSF (DMS 1263932), CPRIT (RP170387), NIH (R01 GM120033), Houston Endowment, Huffington Foundation, Belfer Foundation, and T T Chao Family Foundation. N.P., Y.H., A.C., and S.E.M. are supported by NIH NIGMS (R01 GM067761, NIGMS R01 GM084947), NIH (R24 RR032668, R24 OD021997 to N.P., P.I.), and Dana Farber/Harvard Cancer Center (NCI Cancer Center Support Grant # NIH 5 P30 CA06516 to S.E.M.). H.-T.C. is supported by the Pediatric Neurology Basic Neuroscience Research Track residency training program at Baylor College of Medicine. S.Y. is supported by the Texas Children's Hospital (NRI Fellowship) and Alzheimer's Association (New Investigator Research Grant NIRG-15-364099). M.F.W. is supported by NIH (U01HG007709). S.Y. and M.F.W. are supported by the Simons Foundation (#368479 SFARI Functional Screen of Autism-Associated Variants Award). Publisher Copyright: {\textcopyright} 2017 American Society of Human Genetics",
year = "2017",
month = jun,
day = "1",
doi = "10.1016/j.ajhg.2017.04.010",
language = "English (US)",
volume = "100",
pages = "843--853",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "6",
}