TY - JOUR
T1 - Searching online mendelian inheritance in man (OMIM)
T2 - A knowledgebase of human genes and genetic phenotypes
AU - Amberger, Joanna S.
AU - Hamosh, Ada
N1 - Funding Information:
This work is supported by NHGRI grant, 1U41HG006627.
Publisher Copyright:
© 2017 by John Wiley & Sons, Inc.
PY - 2017/6/1
Y1 - 2017/6/1
N2 - Online Mendelian Inheritance in Man (OMIM) at OMIM.org is the primary repository of comprehensive, curated information on genes and genetic phenotypes and the relationships between them. This unit provides an overview of the types of information in OMIM and optimal strategies for searching and retrieving the information. OMIM.org has links to many related and complementary databases, providing easy access to more information on a topic. The relationship between genes and genetic disorders is highlighted in this unit. The basic protocol explains searching OMIM both from a gene perspective and a clinical features perspective. Two alternate protocols provide strategies for viewing gene-phenotype relationships: a gene map table and Quick View or Side-by-Side format for clinical features. OMIM.org is updated nightly, and the MIMmatch service, described in the support protocol, provides a convenient way to follow updates to entries, gene-phenotype relationships, and collaborate with other researchers.
AB - Online Mendelian Inheritance in Man (OMIM) at OMIM.org is the primary repository of comprehensive, curated information on genes and genetic phenotypes and the relationships between them. This unit provides an overview of the types of information in OMIM and optimal strategies for searching and retrieving the information. OMIM.org has links to many related and complementary databases, providing easy access to more information on a topic. The relationship between genes and genetic disorders is highlighted in this unit. The basic protocol explains searching OMIM both from a gene perspective and a clinical features perspective. Two alternate protocols provide strategies for viewing gene-phenotype relationships: a gene map table and Quick View or Side-by-Side format for clinical features. OMIM.org is updated nightly, and the MIMmatch service, described in the support protocol, provides a convenient way to follow updates to entries, gene-phenotype relationships, and collaborate with other researchers.
KW - Disease gene discovery
KW - Human genetic disorders
KW - Molecular genetics
KW - OMIM
UR - http://www.scopus.com/inward/record.url?scp=85029433513&partnerID=8YFLogxK
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U2 - 10.1002/cpbi.27
DO - 10.1002/cpbi.27
M3 - Article
C2 - 28654725
AN - SCOPUS:85029433513
SN - 1934-3396
VL - 2017
SP - 1.2.1-1.2.12
JO - Current Protocols in Bioinformatics
JF - Current Protocols in Bioinformatics
ER -