Question: how to evaluate coverage at a regions of interest and generate specificity, sensitivity and PPV for that region?
19 months ago by
bioinforesearchquestions • 270
bioinforesearchquestions • 270 wrote:
We have exome sequenced samples at a minimum of 15X coverage using capture kits.
- We would like to
- identify genes that may have low coverage because no probes are available
- identify gene that falls within a region which is difficult to sequence by the capture kit
- how to evaluate coverage at a regions of interest and generate specificity, sensitivity and PPV for that region?
- how to develop statistics based on the existing samples of how well the samples provide on-target coverage, uniformity and ability to detect single nucleotide variants (SNVs), insertions and deletions (indels) and copy number variants (CNVs) in the region of interest.
- Is there any statistics which is already developed?
Kindly experts throw some light on the above queries.
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