Use of model organism and disease databases to support matchmaking for human disease gene discovery.

نویسندگان

  • Christopher J Mungall
  • Nicole L Washington
  • Jeremy Nguyen-Xuan
  • Christopher Condit
  • Damian Smedley
  • Sebastian Köhler
  • Tudor Groza
  • Kent Shefchek
  • Harry Hochheiser
  • Peter N Robinson
  • Suzanna E Lewis
  • Melissa A Haendel
چکیده

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.

منابع مشابه

Mammalian Eye Gene Expression Using Support Vector Regression to Evaluate a Strategy for Detecting Human Eye Disease

Background and purpose: Machine learning is a class of modern and strong tools that can solve many important problems that nowadays humans may be faced with. Support vector regression (SVR) is a way to build a regression model which is an incredible member of the machine learning family. SVR has been proven to be an effective tool in real-value function estimation. As a supervised-learning appr...

متن کامل

Stem Cells Application in Modeling of Human Genetic Diseases

The use of animal models in modeling of human genetic disease has many advantages. In some cases, however, this method may not be applicable due to some limitations, such as differences in tissue composition, anatomy and physiology of humans and animals. Isogenic human disease models are a population of cells that are selected or engineered to model a specific genetic disease, in vitro. They ar...

متن کامل

P-111: An Attempt to Facilitate the Production of Transgenic Mouse As A Model for Gene Therapy of Gaucher Disease

Background: Gaucher disease is an autosomal recessive inherited lysosomal storage disorder that affects many of the body's organs and tissues by defective function of the catabolic enzyme β-glucocerebrosidase. Gene therapy is one of the efficient ways for treatment of this disease. Due to the lack of appropriate animal models, in the field of gene therapy little progress has been done.Mate...

متن کامل

Prevalence of proline racemase/ hydroxyproline epimerase gene in human brucella isolates in Iran

Background: Human brucellosis is a zoonotic disease caused by Brucella melitensis, Brucella abortus, and Brucella suis. Brucella causes a chronic disease, which subverts the immune defense system of their hosts. In this study, the prevalence of an important Brucella virulence determinant, PrpA, which can modulate immune response, was determined in human isolates. Methods: Polymerase chain reac...

متن کامل

Effectiveness of Support Resources for Patients with Type 2 Diabetes: A Systematic Review of Clinical Trials in Iran

Introduction and Objectives: Type 2 diabetes is a common metabolic disorder worldwide. Health policymakers face challenges in the management of this chronic disease. According to previous studies, due to the complex nature of diabetes, the use of support resources can be effective in improving disease management. The current study aimed to identify the sources of support for patients with type ...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

متن کامل
عنوان ژورنال:
  • Human mutation

دوره 36 10  شماره 

صفحات  -

تاریخ انتشار 2015