Linked Life Data

17492749

Source:http://linkedlifedata.com/resource/pubmed/id/17492749

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
2007-9-13
pubmed:abstractText
The National and Ethnic Mutation Databases (NEMDBs) are continuously updated mutation depositories that contain extensive information on the described genetic heterogeneity of an ethnic group or population. Here, we report the construction of the Israeli National Genetic database (Available at: www.goldenhelix.org/israeli; Last accessed: 20 April 2007) to document the sheer genetic heterogeneity found in the Jewish and non-Jewish populations in Israel. The database is built and maintained online using a newly developed customized version of the ETHNOS platform. The Israeli NEMDB is the richest in information among individual NEMDB, containing summaries of 347 genetic disorders studied for the Israeli populations with numerous relevant references and links to the respective Online Mendelian Inheritance in Man (OMIM) entries. Summaries can be selected from an alphabetical summary index or queried using a keyword-based search functionality. An easy-to-use query interface provides access to the over 600 entries on allelic and carrier frequencies of the different mutations responsible for certain inherited disorders in the Jewish and non-Jewish populations, although such documentation is not as extensive as in the other ETHNOS-based NEMDBs. Also, the Israeli NEMDB provides a comprehensive listing of all laboratories providing molecular genetic testing services in Israel with a separate query interface for the user to select which genetic service is provided to a certain laboratory. The Israeli NEMDB is a useful user-friendly and extendable online resource for genetic services in Israel, while the modified version of the ETHNOS software can be particularly useful for similar projects in other populations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1098-1004
pubmed:author
pubmed:copyrightInfo
Copyright 2007 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:volume
28
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
944-9
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database.
pubmed:affiliation
Department of Community Genetics, Public Health Services, Ministry of Health, Ramat Gan, Israel.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't