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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Triple Diagnosis Established by Whole Exome Sequencing
Whole exome sequencing (WES) was requested to determine the possible genetic cause of symptoms (table 1, figure 1) for a 37-year-old Lebanese patient. WES performed on Illumina Platform only for the index (Nextera Rapid Capture Exome Kit, ~95% of target bases were covered at ≥10x).
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Unmet Needs in Human Genomic Variant Interpretation
The quality and the precision of a final diagnosis do not consist solely of correct variant classification and clinical interpretation. Diagnosis begins at the preanalytical level, and all subsequent interpretation can produce either a negative or a positive effect, depending on the quality of the…
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Novel Homozygous PCK1 Mutation
Clinical and laboratory data were collected from three Finnish patients including a sibling pair and another unrelated child with unexplained childhood hypoglycemia. Transient elevation of alanine transaminase, lactate and tricarboxylic acid cycle intermediates, especially fumarate, were noticed…
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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…