OMIMΒΆ

If licensed, SVS includes annotating variants against OMIM (Online Mendelian Inheritance in Man) an online catalog of human genes and genetic disorders.

OMIM is a comprehensive database of human genes and genetic phenotypes for all known mendelian disorders and over 15,000 genes. See OMIM for specifics on the provided data.

Note

To add the OMIM annotation source to your license for SVS contact your account manager or support@goldenhelix.com.

To access this annotation, go to DNA-Seq > Annotate and Filter Variants then select the source from the Secure Annotations/OMIM location of the Data Source Library.

Available annotations include the following sources:

  • OMIM Genes - Provides gene names, cytogenetic location, description of the phenotypes associated with the gene, method for mapping genes, disorders and inheritance information for the disorders.
  • OMIM Genes with Details - Provides all of the same information as OMIM Genes with additional details including (but not limited to) molecular genetics, cloning information, history, gene family and genotype/phenotype correlations.
  • OMIM Phenotypes - Provides gene names, cytogenetic locations and a description of the phenotype.
  • OMIM Phenotypes with Details - Provides all of the same information as OMIM Phenotypes with additional details including (but not limited to) molecular genetics, animal model, clinical features, genotype/phenotype correlations and historical information.
  • OMIM Variants - A variant annotation source with reference and alternate allele information, phenotype, gene name, description and references.

Note

Annotation with the OMIM sources requires gene information that contains a GeneID field for your variants, you will be prompted to select a gene source on the options dialog, for example RefSeq Genes 105v2, NCBI.