Publications Search

Search for publications by author
Search for publications by abstract keyword(s)

Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery


The Matchmaker Exchange application programming interface (API) allows searching a patient's genotypic or phenotypic profiles across clinical sites, for the purposes of cohort discovery and variant disease causal validation. This API can be used not only to search for matching patients, but also to match against public disease and model organism data. This public disease data enable matching known diseases and variant-phenotype associations using phenotype semantic similarity algorithms developed by the Monarch Initiative. The model data can provide additional evidence to aid diagnosis, suggest relevant models for disease mechanism and treatment exploration, and identify collaborators across the translational divide. The Monarch Initiative provides an implementation of this API for searching multiple integrated sources of data that contextualize the knowledge about any given patient or patient family into the greater biomedical knowledge landscape. While this corpus of data can aid diagnosis, it is also the beginning of research to improve understanding of rare human diseases.

Type Journal
ISBN 1098-1004 (Electronic) 1059-7794 (Linking)
Authors Mungall, C. J. ; Washington, N. L. ; Nguyen-Xuan, J. ; Condit, C. ; Smedley, D. ; Kohler, S. ; Groza, T. ; Shefchek, K. ; Hochheiser, H. ; Robinson, P. N. ; Lewis, S. E. ; Haendel, M. A.;
Responsible Garvan Author (missing name)
Published Date 2015-01-01
Published Volume 36
Published Issue 10
Published Pages 979-84
Status Published in-print
URL link to publisher's version
OpenAccess link to author's accepted manuscript version