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
-
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…
-
Clinical Exome Sequencing Targets Genes Associated with All Known Clinical Phenotypes
Watch our recorded webinar, “Clinical Exome Sequencing targets genes associated with all known clinical phenotypes to achieve high diagnostic accuracy” and find out how clinical utility meets patient affordability.
-
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).
-
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…
-
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…