NGS Data Analysis | Clinical Genome Research

Provides NGS data analysis and interpretation for WGS, WES, and Gene Panels

Accelerates the diagnostic process from the raw genetic data to the clinical report

Provides Genomic and Clinical Cohort Analysis

Promotes a world with zero undiagnosed diseases

From NGS data analysis to drug discovery

Accelerating Genetic Diagnosis and Research.

Cases Analyzed

180000

Active Users

150

Countries

Citations

Success Stories

See Geneyx In Action

Detecting Uniparental disomy (UPD) with Geneyx Analysis

UPD occurs at a frequency of 1 in 2000 individuals worldwide (1). The most well-known conditions of UPD include Prader-Willi syndrome, characterized by binge-eating and obesity, and Angelman syndrome, which causes intellectual disability and impaired speech

Confirming Achromatopsia Diagnosis with Geneyx Analysis

One complex case they encountered was a female of Ethiopian descent that was diagnosed with achromatopsia. To confirm the clinical diagnosis, next-generation sequencing was performed. The fastq files were processed using the secondary pipeline integrated with Geneyx, and the VCF files were then annotated and analyzed using Geneyx Analysis.

Applying Geneyx for high-throughput diagnostic settings

Implementation of Geneyx Analysis allowed customized gene panels with automatic reporting capabilities to easily accommodate for their large sample workflows. Coupled with this workflow automation, was the requirement to have customized reports. The Geneyx team was able to provide their customization requests to render reports using dynamic and static information

Identifying multi-nucleotide variants associated with congenital hypotonia and global developmental delay

WGS identified a likely pathogenic, de novo variant in POLR2A, which has a strong association with the phenotype displayed by the individual. The variant was adjacent to a polymorphism variant that was inherited from one of the parents, and this caused their in-house pipeline to mis-identify it as an inherited MNV in the exome sequencing analysis. The WGS findings led to a positive finding that could be presented to the patient.

Identifying a unique novel genetic event for juvenile Parkinson

With their current platform, they achieve a diagnostic yield of approximately 50%, and for the remaining undiagnosed cases, they choose to implement Geneyx Analysis. One complex case they encountered was a large family presenting with early onset Parkinson’s disease (Juvenile Parkinson), which affected several siblings born to closely related parents. The team had sent 10 samples for exome sequencing, which was the standard and most comprehensive genetic test available for clinical diagnostics. However, the results from exome sequencing were inconclusive, so they implemented whole genome sequencing on a subset of the family and analyzed the data with Geneyx.

Our Customers' Experience

In Their Own Words

“A very cost-effective tool in our hands”

“We have been using the Geneyx software for the last 2 years. We have analyzed for clinical purposes a total of approximately 1000 NGS sequences of exomes (WES) and genomes (WGS). We are very satisfied with the Geneyx software as it is easy to use and provides a ranking of variants as a cause of the patients’ phenotype that we have found to be very informative. This ranking allows an easy screening for causing variants which saves analysis time and increases the diagnostic yield. This last point, together with the actual cost per sample results in a very cost-effective tool in our hands.”

Damià Heine Suñer, PhD

Molecular Geneticist Molecular Diagnostics and Clinical Genetics Unit Hospital Universitari Son Espases

Mallorca, Spain

“Geneyx Analysis is at the highest level, and with extraordinary bioinformatics pipelines”

“The Geneyx platform for genetic analysis is at the highest level, and with extraordinary bioinformatic pipelines. Geneyx will assist us in making impactful discoveries for gene-elusive sudden death arrhythmia syndromes.”

Michael Gollob, MD, FRCPC

Scientist, Toronto General Hospital Research Institute (TGHRI)

Toronto, Canada

“I am writing to recommend the services of Geneyx analysis platform”

“I am writing to recommend the services of Geneyx analysis platform. I have been using the Geneyx Analysis platform for the last 4 years to analyze genetic data from ~700 children with rare disorders including from the Department of Pediatrics and Adolescent Medicine using Whole Exome Sequencing and, most recently, Whole Genome Sequencing. They have been reasonably priced and willing to provide great customer service in a timely manner. I am happy to recommend the service of the Geneyx Analysis platform.”

Dr. Brian Chung

Clinical Associate Professor, Department of Pediatrics and Adolescent Medicine

Li Ka shing Faculty of Medicine The University of Hong Kong