AI-Supported Genetic Data Analysis Platform
The Sensitivity and Risk Profile of Genetic Data Next Generation Sequencing (NGS) technologies are revolutionizing genomics by enabling highly personalized analysis at unprecedented speed and depth. However, this technological advancement comes with serious responsibilities—especially in the realm of data security. Genomic data does not only reflect an individual’s health status; it can also reveal ancestral […]
Select the data to be analyzed and enter the workspace. The Custom Panel Creation: For the analysis it is possible to create an in silico custom panel. Click Custom Panel and enter genes, phenotypes or diseases that are related to the case. Click enter to search for the options. Select them by clicking + button. […]
When you log into the NGS Cloud, you will access a dashboard and New Analysis button to upload your data. Click “New Analysis” button to start a new analysis. From the New Analysis section, select the appropriate application for your analysis: Germline, Somatic, Hereditary Cancer, Carrier Risk. You can perform single sample analysis in all […]
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 […]
Whole Exome Sequencing (WES) has become a cornerstone of modern genetics and precision medicine. However, traditional analysis methods often come with long processing times, high costs, and technical complexities. NGS Cloud addresses these challenges by transforming the genetic data analysis process through a powerful, cloud-based infrastructure. What is Whole Exome Sequencing (WES)? WES targets the […]
The artificial intelligence-supported genetic data analysis platform NGS Cloud has reached molecular diagnosis due to its holistic CNV detection approach in an infant whose findings resemble a heterogenic genetic aetiology. The diagnostic yield of whole exome sequencing (WES) tests remains 25-40%, although there is a vast improvement in the last decade (1). Moreover, it takes […]
The artificial intelligence-supported genetic data analysis platform NGS Cloud reached the diagnosis within minutes. The diagnostic yield of whole exome sequencing (WES) tests remains 25-40%, although there is a vast improvement in the last decade (1). Moreover, it takes 6 to 8 years for rare diseases to get an accurate diagnosis (2). We are living […]
The artificial intelligence-supported genetic data analysis platform NGS Cloud has been diagnosed due to its holistic CNV detection approach in a deceased neonate. The diagnostic yield of whole genome sequencing (WGS) tests remains 25-40%, although there is a vast improvement in the last decade (1). Moreover, it takes 6 to 8 years for rare diseases […]
