Software platform for genetic diagnostic support
Abstract
DIAGEN: Software Platform for Helping Genetic Diagnosis. One of the major problems genetic labs deal with when they do a genetic diagnosis is slowness and susceptibility to make mistakes, due to the diversity of the database, that must be manually consulted for doing the genetic diagnosis. The Grupo de Bioinformática of the ProS research center at UPV is working in a prototype of a software platform able to analyze genomic sequences using a database, which associates diseases with genes and mutations. With the aim of building this database a new conceptual framework of the human genome has been developed, in which all the relevant concepts of the genetic and molecular biology fields are represented, as well as the relation between them. This project is aimed to obtain a proof concept of a tool for doing a genetic diagnosis based on the interpretation of the human genome. This software will unify all the information available in a unique repository, reducing the heterogeneity of sources existing today in the genetic and molecular biology fields and accelerating the searching processes. This will provide an early detection of the disease, which can be determinant when choosing a treatment. From DNA samples, the software is able of extracting information related to genetic characteristics and the family history of the individual, focusing on health (Ex. risk of genetic diseases, tendency to addictive behavior, ancestors.).
Technical specifications
Type of technology
SOFTWARE
Inventors
- Pastor López, Oscar
- Levin Chucrel, Ana Marcela
- Casamayor Rodenas, Juan Carlos
- Celma Giménez, Matilde
- Pérez Alonso, Manuel