Review paper

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

Volume: 41, Issue: 2, Pages: 487 - 501
Published: Nov 25, 2019
Abstract
Genetic ataxias are associated with mutations in hundreds of genes with high phenotypic overlap complicating the clinical diagnosis. Whole-exome sequencing (WES) has increased the overall diagnostic rate considerably. However, the upper limit of this method remains ill-defined, hindering efforts to address the remaining diagnostic gap. To further assess the role of rare coding variation in ataxic disorders, we reanalyzed our previously published...
Paper Details
Title
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders
Published Date
Nov 25, 2019
Volume
41
Issue
2
Pages
487 - 501
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