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
-
Novel disease gene discovered
The discovery of novel genetic disorders increasingly relies on large databases and on collaborative international efforts. CENTOGENE is proud to be part of numerous pertinent research endeavors. A recently accomplished corresponding project identified mutations in the PIGB gene as underlying a…
-
Optimization of diagnostic yield
The genetic knowledge around rare hereditary diseases is rapidly increasing. Patients having received a negative diagnostic report may thus gain from a re-analysis of their exomes or genomes. A recent CENTOGENE-initiated study provided impressive evidence for this hypothesis. In a set of patients…
-
CENTOGENE’s Variant Prioritization: Big Data and AI Driving Rare Disease Diagnosis
With big data being a key enabler of any successful artificial intelligence effort, CENTOGENE is ideally suited to employ artificial intelligence (AI) in our diagnostic workflow.
-
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy
Disease expressivity varies widely in many genetic disorders, and identifying the underlying modifiers holds great translational potential. Based on its resources as regards technologies and samples, CENTOGENE is uniquely positioned to significantly contribute to pertinent efforts. One recent…
-
A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia
Based on the ambition to provide maximum diagnostic yield, CENTOGENE offers follow up of negative WES/WGS reports in a research setting. Recently, this approach resulted in the association of a special form of congenital hydrocephalus with bi-allelic inactivation of the DLG5 gene. The finding, which…