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Further filtering was performed on the basis of quality of reads, frequency in the population, prediction of pathogenicity, and evolutionary conservation, leading to one disease-causing genetic variant (Table 2).
Additional file 2: Quality of reads and statistics of sequencing.
The uncategorized fraction of reads varied by length and by quality of reads.
The quality of reads after filtering was examined using 'fastQC' (http://www.bioinformatics.babraham.ac.uk/projects/fastqc/).ac.uk/projects/fastqc/
FastQC [ 43] was used to check the final quality of reads prior to de novo assembly.
FastQC (v0.10.1) was used to assess the quality of reads before and after pre-processing [ 37].
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