1. The implicitome: A resource for rationalizing gene-disease associations
- Author
-
Hettne, K.M. (Kristina), Thompson, M. (Mark), Haagen, H.H.H.B.M. (Herman) van, Van Der Horst, E. (Eelke), Kaliyaperumal, R. (Rajaram), Mina, E. (Eleni), Tatum, Z. (Zuotian), Laros, J.F.J. (Jeroen F.), Van Mulligen, E.M. (Erik M.), Schuemie, M.J. (Martijn), Emmelien, A. (Aten), Li, T.S. (Tong Shu), Bruskiewich, R. (Richard), Good, B.M. (Benjamin M.), Su, A.I. (Andrew I.), Kors, J.A. (Jan), Dunnen, J.T. (Johan) den, Van Ommen, G.-J.B. (Gert-Jan B.), Roos, M. (Marco), Hoen, P.A.C. (Peter) 't, Mons, B. (Barend), Schultes, E. (Erik), Hettne, K.M. (Kristina), Thompson, M. (Mark), Haagen, H.H.H.B.M. (Herman) van, Van Der Horst, E. (Eelke), Kaliyaperumal, R. (Rajaram), Mina, E. (Eleni), Tatum, Z. (Zuotian), Laros, J.F.J. (Jeroen F.), Van Mulligen, E.M. (Erik M.), Schuemie, M.J. (Martijn), Emmelien, A. (Aten), Li, T.S. (Tong Shu), Bruskiewich, R. (Richard), Good, B.M. (Benjamin M.), Su, A.I. (Andrew I.), Kors, J.A. (Jan), Dunnen, J.T. (Johan) den, Van Ommen, G.-J.B. (Gert-Jan B.), Roos, M. (Marco), Hoen, P.A.C. (Peter) 't, Mons, B. (Barend), and Schultes, E. (Erik)
- Abstract
High-throughput experimental methods such as medical sequencing and genome-wide association studies (GWAS) identify increasingly large numbers of potential relations between genetic variants and diseases. Both biological complexity (millions of potential gene-disease associations) and the accelerating rate of data production necessitate computational approaches to prioritize and rationalize potential gene-disease relations. Here, we use concept profile technology to expose from the biomedical literature both explicitly stated gene-disease relations (the explicitome) and a much larger set of implied gene-disease associations (the implicitome). Implicit relations are largely unknown to, or are even unintended by the original authors, but they vastly extend the reach of existing b
- Published
- 2016
- Full Text
- View/download PDF