Diploid announced an update of InHelix, its software for CNV analysis in rare disease diagnostics. InHelix now integrates with Face2Gene, a software platform that facilitates detection of facial dysmorphic features from facial photos. The integration between the two apps allows clinicians to directly access and use dysmorphic patterns detected by Face2Gene from within InHelix, making CNV analysis more accurate and efficient. In addition, InHelix users can auto-import general patient information.

"Face2Gene has been a game changer in rare disease diagnostics" says Dr. Aimé Lumaka, Diploid's CMO. "It has finally introduced an objective, computer-aided dimension to the science of dysmorphology. Numerous clinicians report that it helps them to establish a correct diagnosis that might not be considered otherwise. As a tool for CNV analysis in rare disease diagnostics, one of InHelix's strengths is to integrate as much phenotype data as possible. By interfacing with Face2Gene, we are making it even easier for our clients to leverage phenotype data, strengthening our lead in this area."

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 prioritisation of CNVs, quickly guiding geneticists to the most relevant CNVs for a particular patient.

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 and similarly affected 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.

"With the introduction of InHelix, we have shown that software for genetic analysis does not need to be cumbersome, ugly or hard to use, and that innovation can increase workflow efficiency and boost diagnostic rates", says Dr. Peter Schols, Diploid's CEO. "Less than a month after InHelix was introduced, InHelix is now the first software worldwide to integrate with Face2Gene. This shows our relentless commitment to bringing our clients the latest innovations, enabling them to offer their patients the best possible care."

InHelix is available as a cloud-based service. It runs on ISO 27001 certified infrastructure and is HIPAA compliant. On-site deployment is available 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.