Genome
Sequencing
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Whole genome sequencing WGS aims to read a person’s complete genetic information, detect polymorphisms, somatic mutations, structural variants and chromosomal copy number changes. In a nutshell: if you want to know everything, WGS is the right choice.
What we offer
High quality
With stringent quality control and high degree of automation we perform WGS in an accredited setting
Breadth of results
Identification of SNVs, Indels, SVs, CNVs and repeat expansion with a singel assay
Variety of library preps
depending on the starting material the right WGS library prep makes the difference
Fast turnaround-time
for a comprehensive assessment and characterization of basically any genome
Our process
We at MLLSEQ developed a unique and fast WGS workflow. It is simple, but highly effcient and we are proud to share a couple of details about it with you.
1
Library Preparation
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 cfDNA & FFPE Library Prep (no fragmentation, amplification, IDT)
2
Sequencing
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.
3
Among other things, in tin this step we offer different analysis options 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)