Whole Exome Sequencing – CentoXome®
Most of the disease-causing mutations that science has been able to identify so far are located within the exons. Whereas most genetic tests focus on a single gene or on a set number of predetermined genes, whole exome sequencing examines thousands of genes simultaneously.
Articles on Whole Exome Sequencing
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Confirmation of ACER3-Related Recessive Neurodegeneration
Learn more about our recent findings in confirmation of ACER3-related recessive neurodegeneration, and preliminary evidence for feasibility of biochemistry-based ACER3 variant classification.
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Evidence-Based Algorithm in ES-Based Diagnostics
Next-generation sequencing (NGS) is rapidly replacing Sanger sequencing in genetic diagnostics. Sensitivity and specificity of NGS approaches are not well-defined, but can be estimated from applying NGS and Sanger sequencing in parallel. Utilizing this strategy, we aimed at optimizing exome…
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The First Missense Pathogenic Variant in the KAT6A Gene
CENTOGENE published results of another successful collaborative study in the highly ranked Journal of Human Genetics titled: “A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay.”
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Validation of Gene Causality for Neurological Disorders
Validation of gene causality for neurological disorders by WES/WGS analyses in a diagnostic setting
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Development of an Evidence-Based Algorithm in WES-Based Diagnostics
Development of an evidence-based algorithm that optimizes sensitivity and specificity in WES-based diagnostics of a clinically heterogeneous patient population. Sensitivity of whole exome sequencing (WES) is not well-defined. We applied very low thresholds in WES-associated variant calling to also…