Use of model organism and disease databases to support matchmaking for human disease gene discovery.
Use of model organism and disease databases to support matchmaking for human disease gene discovery.
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DOI：
10.1002/humu.22857
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发表时间：
2015-10
期刊：
影响因子：
3.9
通讯作者：
Haendel MA
中科院分区：
文献类型：
--
作者：
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
Matchmaker Exchange API允许跨临床站点搜索患者的基因或表型特征，以用于队列发现和变异疾病因果验证。此API不仅可用于搜索匹配的患者，还可用于匹配公共疾病和模型生物体数据。这些公共疾病数据能够使用由君主倡议开发的表型语义相似性算法匹配已知疾病和变异-表型关联。模型数据可以提供额外的证据来帮助诊断，为疾病机制和治疗探索提出相关模型，并确定翻译部门的合作者。君主计划提供了这一API的实现，用于搜索多个集成的数据源，这些数据源将关于任何给定患者或患者家属的知识与更广泛的生物医学知识版图联系起来。虽然这一数据库可以帮助诊断，但它也是提高对人类罕见疾病了解的研究的开始。
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.