OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

Amberger, Joanna S.; Bocchini, Carol; Schiettecatte, François; Scott, Alan F.; Hamosh, Ada

doi:10.1093/nar/gku1205

Cited by 1,887 publications

(1,590 citation statements)

References 14 publications

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“…Human genetics data are extracted from Online Mendelian Inheritance in Man (OMIM), 14 Exome Aggregation Consortium (ExAC), 15 Genotype to Mendelian Phenotype (Geno2MP), ClinVar, 16 Database of Genomic Variants (DGV), 17 and DECIPHER (database of genomic variation and phenotype in humans using Ensembl resources). 18 We display the human gene description, gene-phenotype relationships, and reported alleles from OMIM.…”

Section: Human Genetics Databasesmentioning

confidence: 99%

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

Wang¹,

Al‐Ouran²,

Hu³

et al. 2017

The American Journal of Human Genetics

194

146

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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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Section: Human Genetics Databasesmentioning

confidence: 99%

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

Wang¹,

Al‐Ouran²,

Hu³

et al. 2017

The American Journal of Human Genetics

194

146

View full text Add to dashboard Cite

show abstract

“…This is possible because Gene Ontology tools are advanced bioinformatics software that well integrate many different level of information, and link directly to other advanced resources on metabolic pathways, pathologies, available as external resources, i.e. KEGG database [25], OMIM [26] and so on.…”

Section: Tools For Functional Analysismentioning

confidence: 99%

Bioinformatic resources for the investigation of proteins and proteomes

Facchiano¹

2017

Peptidomics

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Experimental techniques in omics sciences need strong support of bioinformatics tools for the data management, analysis and interpretation. Scientific community develops continuously new databases and tools. They make it possible the comparison of new experimental data with the existing ones, to gain new knowledge. Bioinformatics assists proteomics scientists for protein identification from experimental data, management of the huge data produced, investigation of molecular mechanisms of protein functions, their roles in biochemical pathways, and functional interpretation of biological processes. This article introduces the main bioinformatics resources for investigation in the protein world, with references to analyses performed by means of free tools available on the net.

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“…(http://www.omim.org/ see General resources in Genetics and/or Oncology) The "Online Mendelian Inheritance in Man" (OMIM) catalog encloses 1,523 entries with "fusion gene" (Amberger JS et al, 2015). GenenTech (Klijn C et al, 2015).…”

Section: I-9 Omimmentioning

confidence: 99%