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However, this only occurs for a fraction of variants.
Therefore, a relevant fraction of variants are involved in breast cancer through splicing alterations.
The fraction of variants with a Bayes factor < for fixed dispersion ρ is shown in Figure 2a.
From looking at specific examples it appears that only a small fraction of variants get an incorrect annotation from both software tools.
These scenarios are equivalent, as Eq. 6 also quantifies the expected fraction of variants that will be found in the project.
As a control, a fraction of variants were sequenced using the ABI Prism BigDye Terminators and the ABI Prism 3100 sequencer (Applied Biosystems).
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A fraction of variant sites was found as homoplasmic in any samples and heteroplasmic in others.
To investigate the role of variant frequency, we examine the fraction of variant sites discovered by Thunder as a function of frequency and compare with the variant sites discovered by multi-sample Unified Genotyper.
In addition to overall concordance, we examined the false positive rate for each sample and genotype caller, defined as the fraction of variant sites for that sample called with at least one non-reference allele by the genotype caller that are homozygous reference on the Exome Chip.
Finally, we calculated the fraction of true variants among variants called by exactly one or by all four methods (Additional file 1: Figure S1).
More specifically, the AUPRC measure can be interpreted as a probability: it equals the fraction of true variants among those variants whose score exceed a randomly selected threshold [ 15].
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