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Assessment of the Incorporation of CNV Surveillance into Form

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Assessment of the Incorporation of CNV Surveillance into Form

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I'm John mcguigan and I'm a biologist here at soft genetics and in this webinar today I'm going to take you through the dispersion and hmm algorithm which you can use for cnv Discovery in the next Gene this is a coverage based algorithm so our end goal will be something like what you see here this is a tumor normal comparison and you can see that this is the ratio between the coverage in the test project and the control project and you can see that some regions are highly in red where the ratio is lower and some regions are highlighted in green indicating duplications where the coverage in the test sample is higher so from this we can get an idea of where our deletions and duplications are so in this coverage based detection what we do is we Define our regions of Interest which can be usually for targeted sequencing or amplicon locations and we count the reads either using normalized read counts or rbkm which is a more standardized measurement of coverage in eit

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