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Success Stories

Towards Personalised Medicine for Breast Cancer in the Caribbean – A Pilot Study 

Dr. Weldon’s Caribbean Breast Cancer Whole Genome Pilot Study aims to identify unique genetic markers for Caribbean women that will allow for more specific predictive screening and earlier intervention.
Breast Cancer study using Geneyx Analysis

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.
Normal Retina and Retinal Achromatopsia
Woman Scientist

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.
Congenital Hypotonia
Genetic Event for Juvenile Parkinson

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.
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Geneyx Analysis Version 5.12 Release

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