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10.1002/humu.22857

http://scihub22266oqcxt.onion/10.1002/humu.22857
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C5473253!5473253!26269093
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suck abstract from ncbi


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pmid26269093      Hum+Mutat 2015 ; 36 (10): 979-84
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  • 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 PMID26269093show ga
  • The Matchmaker Exchange 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 enables 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.
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