AI-Supported Genetic Data Analysis Platform
Next Generation Sequencing (NGS) technologies have revolutionized the diagnosis of genetic diseases, but it is now well understood that these analyses are not static. Over time, reanalysis—reevaluating a patient’s data in light of newly available information—has become increasingly essential. One of the key reasons is the ongoing update of databases that provide knowledge about genetic […]
The Role of CNVs in the Evolution of Genetic Diagnostics Recent advances in molecular genetics have transformed the diagnosis of hereditary diseases. At the heart of this transformation lies Copy Number Variations (CNVs)—structural changes in the genome involving deletions or duplications of DNA segments. Especially in patients with unexplained clinical phenotypes, CNV analysis offers vital […]
RNA sequencing (RNA-Seq) is a powerful NGS-based technique used to understand gene expression at the cellular level. In this article, we will explore the working principles of RNA-Seq, bioinformatics analysis steps, and its significance in research in detail. What is RNA-Seq and Why is it Used? RNA-Seq is an NGS method used to profile the […]
