Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions.
Soumya Raychaudhuri, Robert M Plenge, Elizabeth J Rossin, Aylwin CY Ng, undefined International Schizophrenia Consortium, Shaun M Purcell, Pamela Sklar, Edward M Scolnick, Ramnik J Xavier, David Altshuler, Mark J Daly
PLoS Genet | Published : 2009
Translating a set of disease regions into insight about pathogenic mechanisms requires not only the ability to identify the key disease genes within them, but also the biological relationships among those key genes. Here we describe a statistical method, Gene Relationships Among Implicated Loci (GRAIL), that takes a list of disease regions and automatically assesses the degree of relatedness of implicated genes using 250,000 PubMed abstracts. We first evaluated GRAIL by assessing its ability to identify subsets of highly related genes in common pathways from validated lipid and height SNP associations from recent genome-wide studies. We then tested GRAIL, by assessing its ability to separate..View full abstract
Awarded by NIDDK NIH HHS
Awarded by NHGRI NIH HHS
Awarded by NIGMS NIH HHS
Awarded by NIAMS NIH HHS