A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)
Top Cited Papers
Open Access
- 8 February 2011
- journal article
- databases
- Published by Hindawi Limited in Human Mutation
- Vol. 32 (5), 564-567
- https://doi.org/10.1002/humu.21466
Abstract
OMIM's task of cataloging the association between human phenotypes and their causative genes (the Morbid Map of the Genome) and classifying and naming newly recognized disorders is growing rapidly. Establishing the relationship between genotype and phenotype has become increasingly complex. New technologies such as genome‐wide association studies (GWAS) and array comparative genomic hybridization (aCGH) define “risk alleles” that are inherently prone to substantial interpretation and modification. In addition, whole exome and genome sequencing are expected to result in many reports of new mendelian disorders and their causative genes. In preparation for the onslaught of new information, we have launched a new Website to allow a more comprehensive and structured view of the contents of OMIM and to improve interconnectivity with complementary clinical and basic science genetics resources. This article focuses on the content of OMIM, the process and intent of disease classification and nosology, and anticipated improvements in our new Website (http://www.omim.org). Hum Mutat 32:1–4, 2011.This publication has 9 references indexed in Scilit:
- Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 geneHuman Mutation, 2010
- Elements of morphology: IntroductionAmerican Journal of Medical Genetics Part A, 2009
- The IC3D Classification of the Corneal DystrophiesCornea, 2008
- The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary DiseaseAmerican Journal of Human Genetics, 2008
- An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousinsClinical Genetics, 2008
- Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycanBrain, 2007
- Mendelian Inheritance in Man and Its Online Version, OMIMAmerican Journal of Human Genetics, 2007
- Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girlsAmerican Journal of Medical Genetics Part A, 2005
- The Mammalian Phenotype Ontology as a tool for annotating, analyzing and comparing phenotypic informationGenome Biology, 2004