Sentence examples for by Cpipe for high from inspiring English sources
Additional file 2: An example of the sample summary PDF produced by Cpipe for high level quality control purposes.
While the specific diagnostic outcomes for the Melbourne Genomics Health Alliance demonstration project will be reported elsewhere, we found that using the outputs generated by Cpipe, the diagnostic rate for a broad range of Mendelian adult and childhood conditions compares favourably to well established clinical genomics projects that claim diagnostic rates in the range of 25%to35%35 % [ 25, 26].
Therefore, a sample that is re-analysed by Cpipe at a later date may be assigned different values for the frequency at which variants are observed in the internal database.
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We analysed the healthy control sample NA12878 for a gene panel previously published for diagnosis of cardiomyopathy patients [ 27] to generate examples of the QC reports generated by Cpipe.
These rates are indicative of the default variant calling performance achieved by Cpipe.
Additional file 1: An example of the final report in Excel format produced by Cpipe.
To check the variant calling performance achieved by Cpipe using the default GATK based tool set described earlier, reads from the 1000 Genomes sample NA12878 were analysed.
The built in QC reporting features provided by Cpipe allow clinical users to quickly and easily ascertain if sequencing has achieved sufficient quality to diagnose a patient.
