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Prioritization of whole-exome data by random-walk analysis of protein-protein interactions

Phenotypic Series: How-To

The basic idea of network-based disease gene prioritization is that the sought after (novel) this gene is likely to be located in the same neighborhood of the protein-protein interaction network as other (currently known) genes involved in the same or similar diseases. For instance, the so-called ciliopathies include diseases such as Bardet Biedl syndrome that are clinically highly similar and caused by mutations in genes encoding proteins that interact with one another within the cilia.

Choosing a disease-gene family

If you are searching for a novel gene with the Exome Walker, you need to choose a disease gene family to act as a "seed" in the search for similar genes. There are two options. We provide approaximately 250 predefined disease gene families derived from the phenotypic series of OMIM. A phenotypic series provides a tabular view of genetic heterogeneity of similar phenotypes across the genome.

The other option is to define your own disease gene family using criteria that make sense for your experiment. In this case, you need to provide a comma-separated list of identifiers for NCBI's Entrez Gene. For instance, if you wanted to define a disease gene family consisting of FBN1, FBN2, and FBN3, you would enter

2200, 2201, 84467 

This page presents a list of all available genes families derived from OMIM phenotypic series.