Partek Flow Documentation

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The copy number detection task is used to detect regions of DNA copy number imbalance within the genome for DNA-Seq experiments.   Partek® Flow®  Partek Flow provides the CNVkit1 methodology (https://cnvkit.readthedocs.io/en/stable/) to find regions of altered copy number, optimized for targeted resequencing of whole-exome and targeted panels that utilize a hybrid capture approach.  The methodology uses both targeted reads and nonspecific off-target reads divided into bins to determine copy number, subsequently normalizing the data to a pooled reference of control samples and correcting for systematic biases.

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Define controls allows for the specification of control samples in the project that will be pooled to create a reference copy number for both on- and off-target genomic bins using  bias-corrected read depth from each control sample.  In projects that contain matched tumor/normal samples, all normal samples should be included in the control sample pool.  Control samples can be group based on a categorical attribute in the data tab or manually selected. If no control samples are available, it is possible to run CNVKit with no controls by leaving the sample pool empty. This will create a "flat" reference for neutral copy number. 

Select reference sequence will utilize the species genome build utilized for alignment.  If the selected aligned data node was imported, the reference assembly used during data alignment needs to be specified from the drop-down list.  The Assembly can be previously associated with Partek® Flow® via Library File Management or added on the fly.

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Selecting the chromosome icon  in the view column will link to Chromosome view.   

References

  1.  Talevich E, Shain AH, Botton T, Bastian BC. CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing. PLOS Comput Biol. 2016;12(4):e1004873. doi:10.1371/journal.pcbi.1004873

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