AI-Supported Genetic Data Analysis Platform
This technical review examines how cohort size (number of samples) and inter-sample correlation influence the power and error rates of detecting genomic copy number variations. It covers theoretical and practical findings, scientific evidence from the literature, algorithmic comparisons, design considerations, and the importance of sample size. What Are Copy Number Variants (CNVs)? Genetic diversity in […]
Every individual carries a unique set of characteristics shaped by the complex interaction between genetics and the environment. Our DNA — the hereditary material passed down from parents to offspring — acts as the blueprint for physical structure, biological processes, and even certain behavioral tendencies. While the environment plays a crucial role in modifying or […]
RNA-Seq (RNA sequencing) is one of the most powerful tools in modern biology, enabling a comprehensive exploration of gene expression. However, the reliability of the conclusions drawn from RNA-Seq is directly dependent on the quality of the data obtained. In RNA-Seq experiments, quality control (QC) is not merely a technical formality but a critical step […]
Genomic research is one of the fastest-growing fields in biotechnology and bioinformatics. With the rise of Next Generation Sequencing (NGS), researchers are generating vast amounts of data. Fortunately, there are many free databases, tools, and platforms that make genomic data analysis accessible to everyone. Below you will find 20 free resources that can help you […]
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 […]