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2015 ; 36
(10
): 979-84
Nephropedia Template TP
gab.com Text
Twit Text FOAVip
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English Wikipedia
Use of model organism and disease databases to support matchmaking for human
disease gene discovery
#MMPMID26269093
Mungall CJ
; Washington NL
; Nguyen-Xuan J
; Condit C
; Smedley D
; Köhler S
; Groza T
; Shefchek K
; Hochheiser H
; Robinson PN
; Lewis SE
; Haendel MA
Hum Mutat
2015[Oct]; 36
(10
): 979-84
PMID26269093
show ga
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.
|*Databases, Genetic
[MESH]
|Animals
[MESH]
|Disease Models, Animal
[MESH]
|Disease/*genetics
[MESH]
|Genetic Predisposition to Disease/*genetics
[MESH]