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Interestingly, the bioinformatic analysis could not reliably predict the consequences of this variant.
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Since we observed that one variant could have consequences for more than one transcript/gene, subsequent filtering was performed using the consequences of the variants instead of the variants themselves.
A lack of functional assays has hampered the conclusive validation of the consequences of these variants.
The factors that influence the pathogenic consequences of this variant remain unknown.
This frontotemporal functional anatomy of the task makes it ideally suited to study the consequences of behavioural variant FTD, providing a model system within which to evaluate magnetoencephalography in the context of behavioural variant FTD.
The resources are fully integrated within to the Ensembl genome browser and with the high-quality Ensembl gene sets in order to estimate the consequences of each variant.
Furthermore, performing in vitro experiments to verify the consequences of each variant is costly and time consuming, and may not be practical.
There are instances when IT does not accurately predict the consequences of a splice variant.
McLaren W, Pritchard B, Rios D, Chen Y, Flicek P, Cunningham F. Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor.
The Variant Effect Predictor tool from Ensembl [ 44] was used to identify the consequences of all variants in each sample.
The variant interpretation software Alamut, (http://www.interactive-biosoftware.com/software/alamut/features) was used to interpret and predict the consequences of identified variants.
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