Seqplexing has participated in the annual congress organized by the European Society of Human Genetics in Glasgow, presenting preliminary studies on the application of EOSAL-CNV to next generation sequencing (EOSAL-NGS) in a gene panel for the genetic diagnosis of Hereditary Angioedema (HAE)
The Congress took place on June 10-13 in the Scottish city of Glasgow, organized by the European Society of Human Genetics (ESHG). This congress allowed to know the latest news about human genetics in the international field, as well as the most current technologies used in the field of genetic diagnosis. The work in which Seqplexing has had the opportunity to participate consists of the development of the EOSAL-NGS technology for the diagnosis of Hereditary Angioedema disease (HAE). This project has been carried out in collaboration with the INCLIVA Health Research Institute in charge of the FDGEN/2019/006 grant for the training of doctors in Valencian companies and the PI21/00506 grant from the Ministry of Science and Innovation and the Carlos III Health Institute (ISCIII). This work is part of a doctoral thesis project co-directed by Carmen Ivorra Ivorra, scientific director of Seqplexing.