GRIDD: Design and development of a system for detecting large genetic insertions and deletions to assist in the diagnosis of neurometabolic disorders
Project Description + Objectives and Expected Results + Gradiant’s Role in the Project
The goal of this project is to design a pipeline that, using data aligned by the sequencing platform, reliably detects large insertions and deletions, with the aim of facilitating the diagnosis of neurometabolic disorders and avoiding the diagnostic struggles commonly associated with these diseases. This is a coordinated project between the Unit for Diagnosis and Treatment of Congenital Metabolic Diseases (UDyTEMC) and the Galician Telecommunications Technology Centre, GRADIANT.
As a result, PattRec has been developed, a diagnostic tool that combines the technological revolution provided by current and future Next Generation Sequencing (NGS) technology with sophisticated bioinformatic algorithms based on statistical techniques to achieve more rigorous variant detection, minimizing the false negative rate and increasing the likelihood of identifying the underlying variant(s) for each clinical phenotype under study.
The tool allows for the analysis of sequenced data from mass sequencing technologies where only a set of genes is available, known as Targeted Sequencing (TR). This type of sequencing, much faster and more cost-effective than traditional techniques, presents severe limitations for analysis and interpretation, generally due to the use of very short reads and the repetitive nature of DNA itself. However, PattRec can process this data and automatically detect points in the genome where structural variants are most likely, based on the available gene information. This tool enables professionals to narrow down their search significantly, helping uncover the variants underlying a disease.
PattRec was awarded third place in the Projects category at the III Innova eVIA Award, organized by AMETIC and the Spanish Technological Platform for Health, Active Life, and Independent Living.
The trial version of PattRec is available for download at this link.
This project has received funding under the 2013 call for Strategic Health Action from ISCIII (Carlos III Health Institute), co-financed under the new FEDER 2014-2020 Operational Program for Smart Growth, with code PI13/02451, in the amount of €10,769.00.
