Ömer Faruk Yazar, The Importance of Reanalysis and Resequencing in Unsolved Rare Disease Cases with Interlab Database Collaborations
Genomic sequencing technologies opened a new era for genetic disorder diagnostics. Currently, in over 80% of the cases, the genetic etiology of the diseases can be determined by identifying the causative variations. In this study, we have utilized two next-generation sequencing technologies, Ion-Torrent and Illumina, for a rare disease family with two siblings sharing similar symptoms. In addition to comparing technologies, different assemblies of human reference assemblies are analyzed and the benefits of all are discussed for revealing the variants of unsolved rare disease cases.
Date: 29.11.2022 / 12:30 Place: A108