MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
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 or...
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| Published in | American journal of human genetics Vol. 100; no. 6; pp. 843 - 853 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
01.06.2017
Elsevier |
| Subjects | |
| Online Access | Get full text |
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| 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. |
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| AbstractList | 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. 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.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. |
| Author | Liu, Zhandong Zornio, Patricia A. Schroeder, Molly C. Lee, Hane Muzny, Donna M. Toro, Camilo Brush, Matthew Splinter, Kimberly Golas, Gretchen A. Lewis, Richard A. Liebendorfer, Adam P. Loomis, Carson R. Ward, Patricia A. Briere, Lauren C. Pena, Loren D.M. Handley, Lori H. Lincoln, Sharyn A. Alejandro, Mercedes E. Graham, Brett H. Sullivan, Jennifer A. Wheeler, Matthew T. Boone, Braden E. Esteves, Cecilia Tolman, Nathanial J. Yamamoto, Shinya Al-Ouran, Rami Metz, Thomas O. Newberry, J. Scott Gould, Sarah E. Dorset, Daniel C. Frost, Kate Waggott, Daryl M. Robertson, Amy K. Pallais, J. Carl Papp, Jeanette C. Posey, Jennifer E. Comjean, Aram Koeller, David M. Orange, Jordan S. Bick, David P. Scott, Daryl A. Hardee, Isabel Cogan, Joy D. Dhar, Shweta U. Gordon, Mary G. Nicholas, Sarah K. Maduro, Valerie V. Draper, David D. Loscalzo, Joseph Barseghyan, Hayk Lee, Brendan H. Krier, Joel B. Murphy, Jennifer L. Silverman, Edwin K. Hu, Yanhui Bacino, Carlos A. Balasubramanyam, Ashok Waters, Katrina M. Perrimon, Norbert Donnell-Fink, Laurel A. Jiang, Yong- |
| AuthorAffiliation | 10 Howard Hughes Medical Institute, BCM, Houston, TX 77030, USA 4 Department of Pediatrics, BCM, Houston, TX 77030, USA 8 Department of Pediatrics, Section of Child Neurology, BCM, Houston, TX 77030, USA 7 Department of Obstetrics and Gynecology, BCM, Houston, TX 77030, USA 9 Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA 5 Drosophila RNAi Screening Center, Department of Genetics, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115, USA 1 Program in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA 6 Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA 2 Medical Scientist Training Program, BCM, Houston, TX 77030, USA 3 Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX 77030, USA |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/28502612$$D View this record in MEDLINE/PubMed |
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| Copyright | 2017 American Society of Human Genetics Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. 2017 American Society of Human Genetics. 2017 American Society of Human Genetics |
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| Keywords | rare diseases genetic diseases Diopt Geno2MP ExAC Zfin variants of unknown significance FlyBase MGI ClinVar |
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| Snippet | One major challenge encountered with interpreting human genetic variants is the limited understanding of the functional impact of genetic alterations on... |
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| SubjectTerms | ClinVar Databases, Genetic Diopt ExAC FlyBase genetic diseases Genetic Variation Geno2MP Genome, Human Humans MGI Molecular Sequence Annotation rare diseases Software variants of unknown significance Zfin |
| Title | MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome |
| URI | https://dx.doi.org/10.1016/j.ajhg.2017.04.010 https://www.ncbi.nlm.nih.gov/pubmed/28502612 https://www.proquest.com/docview/1899111610 https://pubmed.ncbi.nlm.nih.gov/PMC5670038 |
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