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:
- Analysis of somatic mutations (SNVs/Indels) in a tumor sample and hereditary (germline) mutations (SNVs/Indels) in a normal sample;
- Analysis of structural variations - for each sample from a pair;
- Analysis of copy number variations (CNV) - for each sample from a pair.
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.