Diploid announced the release of InHelix, software for annotating, visualising, filtering and reporting copy number variants (CNVs) obtained from NGS data. The software has been specifically designed for CNV analysis in rare disease diagnostics.

"CNV analysis has traditionally been carried out using array-based techniques, yielding tens or hundreds of CNVs", says Dr. Cyrielle Kint, Diploid’s CSO. "However, CNV analysis is now increasingly being performed on NGS data, resulting in the detection of about 7,000 CNVs in a single human genome, thousands more than would be detected using a routine array-CGH analysis. InHelix is the first CNV analysis software that has been designed from the ground up to handle the large amount of data generated by genome-wide NGS-based CNV detection. This allows InHelix to offer live filtering and smart ranking of CNVs, quickly guiding geneticists to the most relevant CNVs for a particular case."

InHelix sports a list of other unique features, such as the ability to run a CNV family analysis, leveraging the availability of NGS data from healthy family members to assist in filtering CNVs. InHelix also features innovative SmartPanels: unique panels generated by InHelix which are based on HPO terms. In order to enable SmartPanels, InHelix mines the literature on a weekly basis, automatically adding new gene-phenotype correlations to the system.

As well as SmartPanels, InHelix also features over 80 built-in gene panels manually curated by Diploid's geneticists. In addition, the software enables shortlisting of relevant CNVs and the easy generation of a PDF report. InHelix can import CNV data from callers such as CNVnator, Pindel, CoNIFER, CoNVaDING, Canvas, CNVkit, Control-FREEC and many others.

"We think that InHelix offers a great opportunity for undiagnosed rare disease patients" says Dr. Peter Schols, Diploid's CEO. "Geneticists can call CNVs on pre-existing WGS data - or even WES data - from undiagnosed patients, using InHelix to easily filter and report clinically relevant CNVs, providing a diagnosis for more patients."

InHelix is available as a cloud-based service. It runs on ISO 27001 certified infrastructure and is HIPAA compliant. On-site deployment is possible for larger hospitals and labs, or for nationwide genome projects.

Interested geneticists can create a free online account and will receive 5 complimentary analyses, allowing them to use the platform with their own data. More information is available on the InHelix website, including a 10 minute demonstration movie of the software.