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Pair of Tumor/Normal Samples

note

Normal sample is a sample of non-tumor tissue.

Having the results of sequencing of tumor and normal tissues of the same patient, the Genomenal platform can be used for:

  1. Analysis of somatic mutations (SNVs/Indels) in a tumor sample and hereditary (germline) mutations (SNVs/Indels) in a normal sample;
  2. Analysis of structural variations - for each sample from a pair;
  3. Analysis of copy number variations (CNV) - for each sample from a pair.
If you have a pair of tumor/normal samples, then this section is for you.
Attention!

If you want to analyze germline or somatic mutations in a single tumor sample (without a matched healthy tissue sample), go to the corresponding section. This is important, since the discovery algorithm of germline mutations in tumor takes into account a large number of somatic mutations occurring in such tissues and tries to filter them.

For this pipeline, use sample files in FASTQ or BAM formats.