A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)

Amberger, Joanna S.; Bocchini, Carol; Hamosh, Ada

doi:10.1002/humu.21466

Cited by 305 publications

(280 citation statements)

References 10 publications

(9 reference statements)

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“…These results were presented in the fourth Biennial Meeting of the HVP Consortium [Paris, 2012]. Briefly, we identified neurologic records using the OMIM Clinical Synopsis advanced search tool [Amberger et al, 2011]. Disorders with unknown molecular basis, as well as nondisease phenotypes, susceptibility factors, and diseases with unconfirmed mapping, were filtered out.…”

Section: Current Landscape Of Lsdbs For Neurological Diseasesmentioning

confidence: 99%

Databases for neurogenetics: Introduction, overview, and challenges

et al. 2012

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ABSTRACT:The importance for research and clinical utility of mutation databases, as well as the issues and difficulties entailed in their construction, is discussed within the Human Variome Project. While general principles and standards can apply to most human diseases, some specific questions arise when dealing with the nature of genetic neurological disorders. So far, publically accessible mutation databases exist for only about half of the genes causing neurogenetic disorders; and a considerable work is clearly still needed to optimize their content. The current landscape, main challenges, some potential solutions, and future perspectives on genetic databases for disorders of the nervous system are reviewed in this special issue of Human Mutation on neurogenetics.

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Section: Current Landscape Of Lsdbs For Neurological Diseasesmentioning

confidence: 99%

Databases for neurogenetics: Introduction, overview, and challenges

et al. 2012

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“…There are three main sources of data for populating an LSDB: published literature, other databases (e.g., Online Mendelian Inheritance in Man (OMIM, http://omim.org/) [Amberger et al, 2011], dbSNP (http://www.ncbi.nlm.nih.gov/projects/SNP/) [Sherry et al, 2001], Human Gene Mutation Database (HGMD, http://www.hgmd.org/) [Stenson et al, 2009], and direct submission. In general, a curator will start with data obtained from publications or generated in the curator's own institute.…”

Section: Collecting Datamentioning

confidence: 99%

Curating gene variant databases (LSDBs): Toward a universal standard

et al. 2011

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Gene variant databases or Locus-Specific DataBases (LSDBs) are used to collect and display information on sequence variants on a gene-by-gene basis. Their most frequent use is in relation to DNA-based diagnostics, giving clinicians and scientists easy access to an up-to-date overview of all gene variants identified worldwide and whether they influence the function of the gene ("pathogenic or not"). While literature on gene variant databases is extensive, little has been published on the process of database curation itself. Based on our extensive experience as LSDB curators and our contributions to database curation courses, we discuss the subject of database curation. We describe the tasks involved, the steps to take, and the issues that might occur. Our overview is a first step toward establishing overall guidelines for database curation and ultimately covers one aspect of establishing quality-assured gene variant databases.

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“…The first naming scheme for genetic diseases, which was developed over decades by Victor McKusick and colleagues at Online Mendelian Inheritance in Man (OMIM), has long been used in the research community. Ada Hamosh and colleagues provide an overview of the logic behind the OMIM nomenclature in this issue [Hamosh et al, 2011]. Although the OMIM nomenclature has been widely adopted in the research community, it has not been used extensively in hospital IT systems.…”

Section: Standardsmentioning

confidence: 99%