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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Solving the Diagnostic Riddle – Diagnosing Heterogeneous Genetic Disorders with Whole Exome Sequencing
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, a whole exome sequencing test examines thousands of genes simultaneously.
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Novel GNB1 Mutations Disrupt Assembly and Function of G Protein Heterotrimers and Cause Global Developmental Delay in Humans
Global developmental delay (GDD), often accompanied by intellectual disability, seizures and other features is a severe, clinically and genetically highly heterogeneous childhood-onset disorder. In cases where genetic causes have been identified, de-novo mutations in neuronally expressed genes are…
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Whole Exome Sequencing Course April 2017
Gaining deep insights into whole exome sequencing (WES) workflow from lab to report and benefit from experiences via intensive Hands-on courses supervised by our experts.
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Clinical Exome Sequencing – Results from 2819 Samples Reflecting 1000 Families
A study was conducted using whole exome sequencing (WES) to identify underlying pathogenic variants, or likely pathogenic variants, in 1,000 diagnostic cases from 54 different countries. Patients selected displayed a wide variety in the number, nature and severity of symptoms. Clinical information…
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Whole Exome Sequencing Course November 2016
Medical scientists from India, Turkey, Saudi-Arabia and Oman not only gained deep insights into CENTOGENE`s highly standardized CentoXome® whole exome sequencing (WES) workflow.