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Synopis

Somatic mutation Normal Tumor example

DNA-Seq has revolutionized the way we explore genomic variations and aberrations Who remembers sequencing one very short sequence using self-made gels and a actual radioactive assay? Some of us did that during their biology studies and it feels like 100 hundred years ago. Now we are analysing whole genome sequencing samples with over 100X coverage. Either we are very old, or time is advancing. Fast.
We do analyse whole genome sequencing, exome sequencing and targeted resequencing samples from any species and any sequencing platform (Illumina, Ion Torrent, Solid, Complete Genomics, PacBio, Roche 454, Oxford Nanopore and last but not least Qiagen).
We are working on detection of single-nucleotide polymorphisms and variations(SNPs and SNVs), short and long Indels (insertions and deletions) and large genomic aberrations (Copy Number variation (CNV) and Loss of heterozygosity (LOH)).
Details about our DNA-Seq workflows will be published soon.

We are analyzing RNA-Seq data from all mayor next-generation sequencers from Illumina or Ion-Torrent. We can start from files in FASTA, FASTQ, unaligned BAM files or SRA format.

Quality control and read preparation

Alignment

SNVs, short indels, long indels, Copy number

Annotation

Report generation


Your private SNV database