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The role of egSEQ Exome in the research and diagnosis of Parkinson’s diseases



Neurology researchers are utilising our market-leading egSEQ library preparation and Exome solutions to understand genetic risk factors that modulate the clinical manifestations of Parkinson’s disease.


egSEQ Exome Inherit is specially optimised to capture CDS regions comprehensively with market-leading effective coverage of up to 99.88%, combined with an added genome-wide high-density SNP backbone to cover CNVs, it offers a cost-effective early diagnosis solution, offering both an early indication for treatment and a therapeutic target and ultimately improving treatment outcomes with personalised therapies based on the molecular data of individual patients.


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Working collaboratively with our customers, our genomic experts customise NGS panels, laboratory workflows and analysis pipelines to meet individual demand and needs.

 

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