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

EXOME WALKER is a computational method to prioritise a set of candidates in exome sequencing projects that aim to identify novel Mendelian disease genes. Our approach involves filtering a Variant Call Format (VCF) file according to a number of user-definable criteria, for instance, off-target variants (those that are not located within or close to protein-coding exons) are removed.

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 in Köhler et al. (2008) to determine similarity within the PPI network on the basis of the global characteristics of the network.

1. Upload VCF Data

VCF files for single or multiple samples are supported. If you upload a multiple-sample VCF file, you will also be required to enter pedigree data in PED file format. The file suffix must be "VCF" or "vcf".

Choose VCF file: