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- W1964594915 abstract "Sir,It is with great interest that we read the work of Pyle et al. (2014) on the utility of exome sequencing in achieving molecular diagnosis in ataxia. In particular, we take notice of the higher rate of ‘confirmed pathogenic’ and ‘possible pathogenic’ variants identified in this work as compared to others and question the stringency with which these classifications are applied. As stated by Pyle et al. (2014), the 41% (9/22 families) confirmed pathogenic rate is more than 2-fold higher than the 18% (9/50 individuals) detection rate reported using large targeted gene panels (Nemeth et al. , 2013). This was explained by not using a limited gene panel in the Pyle et al. (2014) study, and possibly deeper coverage. However, Fogel et al. (2014), applied whole-exome sequencing to ataxia and found a similarly low rate of pathogenic variants of 21% (16/76 individuals). In this letter we point out that while promising variants were presented by Pyle et al. (2014), many molecular diagnoses that were claimed were based on data that were not entirely convincing, and are likely false-positive.Claiming a variant as pathogenic has immediate implications for future clinical testing and counselling, as publications such as Pyle et al. (2014) are used as a peer-reviewed public record to evaluate if a clinical variant is disease-causing or …" @default.
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- W1964594915 date "2015-04-04" @default.
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- W1964594915 title "Evaluation of exome sequencing variation in undiagnosed ataxias: Table 1" @default.
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- W1964594915 doi "https://doi.org/10.1093/brain/awv087" @default.
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