The Transnational Access Committee of the European Advanced infraStructure for Innovative Genomics (EASI-Genomics) has selected the project PID15251 submitted by DBGen Ocular Genomics in the third call for projects of this initiative. DBGen’s proposal has successfully passed the scientific and technical evaluation steps of this highly competitive call.
EASI-Genomics is an initiative, funded with 10 million euros by the European Union through the Horizon 2020 Research and Innovation Framework Program, which aims to support innovative genomics projects, from the initial design and state-of-the-art sequencing phases to bioinformatic analysis. EASI-Genomics, which includes 16 academic and industrial partners and is coordinated by Ivo Gut, director of the National Center for Genomic Analysis (CNAG), provides the selected projects and their researchers access to cutting-edge European genomics facilities and innovative analysis methodologies.
Although short-read sequencing methodologies remain essential for pathogenic variant identification in genetic diagnosis, in certain cases it is essential to analyze DNA sequences that encompass long genes or complex genomic regions (difficult to sequence with standard methodologies) and identify structural genomic variants such as large chromosomal rearrangements, transposable genetic elements, large duplications and deletions.
The DBGen Ocular Genomics project involves third-generation sequencing technologies (also known as long-read sequencing) to solve complex genetic diagnoses in patients with retinal dystrophies and other inherited eye diseases.
The sequencing will comprise 6 families with a preliminar negative or partial diagnosis after conventional massive sequencing technologies (gene panels or exome sequencing), and the utility of long-read sequencing will be evaluated for the resolution of complex cases. The project wants to contribute to improving the application of this cutting-edge methodology for the genetic diagnosis of rare diseases.
Access to this cutting-edge sequencing technology will be provided by SciLifeLab Uppsala through the SNP&SEQ Technology Platform, part of the National Genomics Infrastructure (NGI), in the Department of Medical Sciences of the Biomedicinskt Centrum (BMC) at University of Uppsala, in Sweden. Science for Life Laboratory (SciLifeLab) is a Swedish national center for molecular biosciences offering frontline technical expertise through platforms equipped with advanced technologies and expertise in translational medicine and molecular biosciences.
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