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

  title={A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)},
  author={J. Amberger and Carol A. Bocchini and A. Hamosh},
  journal={Human Mutation},
  • J. Amberger, Carol A. Bocchini, A. Hamosh
  • Published 2011
  • Biology, Medicine
  • Human Mutation
  • 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… CONTINUE READING
    301 Citations
    Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes
    • 92
    • PDF
    Clinical interpretation of CNVs with cross-species phenotype data
    • 18
    Pathway networks generated from human disease phenome
    • 10
    • Highly Influenced
    An integrative, translational approach to understanding rare and orphan genetically based diseases
    • 15
    • Highly Influenced
    • PDF
    The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
    • 421
    • PDF


    Mendelian Inheritance in Man and Its Online Version, OMIM
    • V. McKusick
    • Biology, Medicine
    • The American Journal of Human Genetics
    • 2007
    • 589
    • PDF
    Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
    • 341
    • PDF
    The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.
    • 661
    • PDF
    The Mammalian Phenotype Ontology as a tool for annotating, analyzing and comparing phenotypic information
    • 419
    Elements of morphology: Introduction
    • 90
    IC3D classification of corneal dystrophies.
    • 135
    • PDF