Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection

Quick and accurate molecular testing is necessary for the better management of many inherited diseases. Recent technological advances in various next generation sequencing (NGS) platforms, such as target panel-based sequencing, has enabled comprehensive, quick, and precise interrogation of many genetic variations. As a result, these technologies have become a valuable tool for gene discovery and for clinical diagnostics. The AmpliSeq Inherited Disease Panel (IDP) consists of 328 genes underlying more than 700 inherited diseases. Here, we aimed to assess the performance of the IDP as a sensitive and rapid comprehensive gene panel testing. A total of 88 patients with inherited diseases and causal mutations that were previously identified by Sanger sequencing were randomly selected for assessing the performance of the IDP. The IDP successfully detected 93.1% of the mutations in our validation cohort, achieving high overall gene coverage (98%). The sensitivity for detecting single nucleotide variants (SNVs) and short Indels was 97.3% and 69.2%, respectively. IDP, when coupled with Ion Torrent Personal Genome Machine (PGM), delivers comprehensive and rapid sequencing for genes that are responsible for various inherited diseases. Our validation results suggest the suitability of this panel for use as a first-line screening test after applying the necessary clinical validation

Green-synthesized nanoparticles and their therapeutic applications: A review

Antibiotic-resistant microorganisms are a rising issue when it comes to human health. Microbial pathogens that cause harmful infections are quickly becoming resistant to the antimicrobial action of traditional antibiotics. Nanotechnology, an innovative sector being an indispensable part of healthcare and research, has in-depth and extensive applications. Nano-compounds have been promising antimicrobial agents, anti-cancerous mediators, vehicles for drug delivery, formulations for functional foods, identification of pathogens, food and drug packaging industry, and many more. However, the chemical synthesis of nanoparticles (NPs) has certain drawbacks such as causing toxicity and other adverse effects. For more than a decade, the use of NPs that are conjugated or green-synthesized has gained popularity due to the two-fold action of metallic NPs mixed with biological sources. In contrast, NPs synthesized using plant or microbial extracts, conjugated with biologically active components, appear to be a safe alternative approach as they are environmentally friendly and cost-effective. Such environmentally safe techniques are referred to as “green nanotechnology” or “clean technology” and are feasible alternatives to chemical methods. Furthermore, NPs conjugated with natural biomolecules have improved bioavailability and have minimal side effects, as they are smaller in size and have higher permeability in addition to being reducing and stabilizing agents possessing excellent antioxidant activity. NPs serve as potential antimicrobial agents due to their affinity towards sulphur-rich amino acids, adhere to microbial cell walls by means of electrostatic attraction, and disrupt the cytoplasmic membrane along with the nucleic acid of microbes. They possess anticancer activity owing to oxidative stress, damage to cellular DNA, and lipid peroxidation. The green-synthesized NPs are thus a promising and safe alternative for healthcare therapeutic applications