Neurology Update from Coordinating Panel on Rare Neurological Diseases
WGS can reliably assess the most common neurological disease-causing repeat expansions, further supporting its implementation in clinical practice.
Key Points:
- WGS showed high sensitivity and specificity when compared with the gold standard to detect repeat expansions.
- The method used was able to identify repeat expansions in patients with a suspected but still undiagnosed neurogenetic disorder, with a 16% false discovery rate.
- Visual inspection is still essential for all calls classified as expanded to detect false positives and for biallelic expansions for which only one expanded allele has been detected.» This study supports a role for WGS in the diagnosis of repeat expansion disorders, further expanding its importance as a tool in undiagnosed rare neurological disease.
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