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Whole genome sequencing WGS aims to read a person’s complete genetic information, detect polymorphisms, somatic mutations, structural variants and copy number changes. In a nutshell: if you want to know everything, WGS is the right choice.
What we offer
We at MLLSEQ developed a unique workflow, that allows us to achieve goals no-one else on the market can currently deliver. It is simple, but highly effcient and we are proud to share a couple of details about it with you.
There are two fundamentally different
approaches for WGS library prep:
PCR-free and with DNA ampliﬁcation, both with mechanic or enzymatic fragmentation.
- TruSeq DNA PCR-Free (sonication, PCR-free, Illumina)
- TruSeq DNA Nano (sonication, amplification, Illumina)
- Illumina DNA Prep (tagmentation, amplification, Illumina)
- xGen Prism DNA (for cfDNA and FFPE, no fragmentation, amplification, IDT)
At MLLSEQ, sequencing is performed using the Illumina sequencing by synthesis method on the latest generation of sequencing devices, the NovaSeq 6000. Sequencing Coverage is depending on the respective application and research question.
Among other things, in this step we provide you with browser-based tools for the interpretation of small and large scale molecular genetic changes. Usually, a tumor-normal comparison is performed in genomic sequencing assays, however our pipeline is additionally used to work with a tumor-unmatched Normal control:
- bcl2fastq (Demultiplexing)
- Isaac Aligner (Alignment)
- Strelka2 (Variant calling: SNV)
- GATK4 (Variant calling: CNV)
- MANTA (Variant calling: SV)