Diploid's InHelix NGS Software for CNV Interpretation
Diploid has launched InHelix, a next-generation software for copy number variants (CNVs) interpretation. The software annotates, visualizes, filters, and reports CNVs obtained from NGS data. It also enables users to run a CNV family analysis and SmartPanels, unique panels generated by the software based on HPO terms. InHelix offers over 80 built in gene panels manually curated by Diploid geneticists, the ability to create a short listing of relevant CNVs in PDF form, and the ability to import CNV data from a variety of callers.