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ExomeWalker |
ExomeWalker is a computational method to prioritise a set of candidates in exome sequencing projects that aim to identify novel Mendelian disease genes. Genes are prioritised according to a variant score (predicted pathogenicity, rarity, pattern of variants compatible with the assumed mode of inheritance) and to their vicinity to other genes that belong to the same disease-gene family within the protein protein interaction (PPI) network, using the Random-Walk method as described previously to determine similarity within the PPI network on the basis of the global characteristics of the network.
Please refer to the original publication for more details:
Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases
Damian Smedley,Sebastian Kohler, Johanna Christina Czeschik,Joanna Amberger, Carol Bocchini, Ada Hamosh, Julian Veldboer,Tomasz Zemojtel, Peter N Robinson
Bioinformatics (2014) 30 (22): 3215-3222.
ExomeWalker has been developed by our group, the group of Prof. Robinson at JAX, and the Mouse Informatics Group at the Sanger Institute.