An intelligent genetic platform diagnosing DNA sequencing pathogens by using NGS

Next Generation Sequencing (NGS) technology is rapidly gaining ground in the field of genetic diagnosis and research. The technology is currently used to diagnose chromosomal abnormalities, since Microarray-based Comparative Genomic Hybridization (aCGH), has limitations in the breadth and depth of information it offers while lagging behind NGS technology in the ability to make small rearrangements of genetic material and the cost per information unit. Also, the new NGS technology can give combined results both for small gene lesions or variants, as well as for structural abnormalities or aneuploidy of chromosomes. Based on this technology, we design a genetic platform for targeted multiple parallel analysis of the sequences involved in the creation of structural abnormalities of chromosomes that cause micro-deletion and micro-duplication (MMS) syndromes. These rearrangements are essentially sub-microscopic genomic variants in the number of copies of one or more DNA fragments (Copy Number Variations, CNVs), which result in chromosome defects or duplications in regions with one or more genes. They are essentially structural genomic markers, ranging in size from 1 kb to many Mbs, and are characterized as either Copy Number Polymorphisms (CNPs) or rare polymorphisms responsible for many genetic syndromes.