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A new face and new challenges for Online Mendelian Inheritance in Man (OMIM ® )
Author(s) -
Amberger Joanna,
Bocchini Carol,
Hamosh Ada
Publication year - 2011
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.21466
Subject(s) - biology , omim : online mendelian inheritance in man , mendelian inheritance , genetics , genome wide association study , computational biology , exome sequencing , genetic association , genome , genomics , comparative genomic hybridization , phenotype , gene , genotype , single nucleotide polymorphism
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).