
Sample Preparation





In Silico Analysis

Expression Quantification

Methylation Analysis
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SHOWCASES
Representative project samples in various research areas to guide you through how Genesky’s technologies help
researchers around the world tackle challenging research questions

Title:
Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification
Journal:
Journal of Human Genetics
Research area:
CNV analysis tools
Techniques:
AccuCopy

Title:
A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease
Journal:
BMC Genomics
Research area:
Congenital heart disease
Techniques:
CNVplex

Title:
Genomic variations of the mevalonate pathway in porokeratosis
Journal:
eLIFE
Research area:
Porokeratosis
Techniques:
EasyTarget; CNVplex

Title:
Genome-wide association study validation identifies novel loci for atherosclerotic cardiovascular disease
Journal:
Journal of Thrombosis and Haemostasis
Research area:
Atherosclerotic cardiovascular disease
Techniques:
SNPscan

Title:
Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy
Journal:
The American Journal of Human Genetics
Research area:
Primary Hypertrophic Osteoarthropathy
Techniques:
Exome sequencing

Title:
A Functional Copy-Number Variation in MAPKAPK2 Predicts Risk and Prognosis of Lung Cancer
Journal:
The American Journal of Human Genetics
Research area:
Lung Cancer
Techniques:
AccuCopy

Title:
A Functional Copy Number Variation In The WWOX Gene Is Associated With Lung Cancer risk In Chinese
Journal:
Human Molecular Genetics
Research area:
Lung Cancer
Techniques:
AccuCopy

Title:
An Exploratory Study On STX6, MOBP, MAPT, And EIF2AK3 And Late-Onset Alzheimer’s Disease
Journal:
Neurobiology of Aging
Research area:
Alzheimer’s Disease
Techniques:
iMLDR

Title:
Characterization Of Large Deletions In The F8 Gene Using Multiple Competitive Amplification And Genome Walking Technique
Journal:
Journal of Thrombosis and Haemostasis
Research area:
Hemophilia A
Techniques:
AccuCopy

Title:
Detecting Genetic Association of Common Human Facial Morphological Variation Using High Density 3D Image Registration
Journal:
PLOS Computational Biology
Research area:
Human Facial Morphology
Techniques:
Multiplex SNaPshot
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