February 12, 2015
An article published in the American College of Medical Genetics and Genomics describe “a genetic network–based method to rank candidate genes identified in family-based sequencing studies (as the) identification of additional individuals suffering from the same disorder can be difficult because of rarity and phenotypic heterogeneity”. They termed this network phenotype informed network (PIN) ranking and provide evidence that this method is capable of identifying the correct disease-causative gene in a majority of cases. They also present a case study as an extension of the PIN ranking method in which disease symptoms drive the network ranking and identification of the disease-causative gene. PIN-rank is available at https://genomics.scripps.edu/pinrank/. The authors believe that PIN will help in “prioritising candidate disease-causative genes based on symptoms that would be useful for both the prioritization of candidates and the identification of additional subjects”.