Today, we launch Signios Bio, a rebrand of what was previously known as MedGenome US Research Services. With a focus on scientific collaboration and breakthrough discovery, Signios Bio offers an integrated end-to-end suite of multiomic technologies.
Genetic variation can range from changes at the level of single bases to whole-chromosomal aneuploidies. Structural variations (SVs) refer to a large alterations in chromosomal structure, typically encompassing larger than 1 Kbp of DNA. SVs include both balanced changes, such as inversions and some forms of translocations, as well as those that alter DNA copy number through duplications and deletions of chromosomal segments. SVs account for 25% of protein truncating mutations and are 3 times more likely to associate with a genome-wide association study (GWAS) signal than single nucleotide variants (SNVs). SVs contribute to all classes of genetic disease: sporadic development syndromes, Mendelian diseases, complex disorders and infectious diseases, as well as health-related metabolic phenotypes.
Next-generation sequencing (NGS) data is being increasingly used in clinical diagnosis to identify genetic variation that can be a cause for the disease. A major challenge in using NGS data in a clinical setting is to make the right interpretation because of its huge size and complexity. Also, there are possibilities of technical errors during the sample processing and/or sequencing stage that may be inherent to the kind of sequencing technology used. Therefore, the use of reference standards is of paramount importance to mitigate and minimize these errors.
It is known that all the hereditary information is contained within an organism’s genome. Owing to continuous global efforts many new bioinformatics databases are emerging and has seen an up trend in the recent past, a reflection on how NGS data is impacting our understanding of life and our need to constantly develop new methods to investigate and decode the information in and around DNA (or RNA for some viruses) and its nucleotide sequences.
With the advent of novel Next generation sequencing (NGS) technology platforms – DNA Sequencing has seen a revolutionary leap both in terms of cost and application in cutting-edge research.. Today, we can sequence an entire Human genome in a day compared to the conventional Sanger sequencing using capillary electrophoresis. It is now possible to identify and track genetic variation in a more efficient and precise manner. Also, owing to this seamless sequencing capability now thousands of variants can be analysed within a large population in a short span of time.
