Targeted Panel
Sequencing
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What we offer
Robust and standardized
fully automated and high-throughput experience in a diagnostic setting
Deep sequencing
we target in median >1,500x with a minimum Coverage of 400x reaching a high sensitivity.
Fast turnaround-time
for library prep, sequencing and Variant interpretation for our hematological Panels
Our process
In this workflow, we at MLLSEQ combine our maximum experience from the diagnostic setting. This has resulted in a workflow that is of highest data quality, standardized, robust and processed in high throughput on a daily basis. We are proud of our blockbuster and we are happy to share a couple of details about it with you.
1
Library Preparation
We use different approaches for a targeted Panel library prep:
- TruSeq DNA Nano (sonication, amplification, Illumina)
- Illumina DNA Prep (tagmentation, amplification, Illumina)
- xGen cfDNA & FFPE Library Prep (no fragmentation, amplification, IDT)
followed by xGen lockdown Panels and the xGen hybridization capture workflow (IDT)
- TruSight Oncology 500 (Illumina)
2
Sequencing
At MLLSEQ, sequencing is performed using the Illumina sequencing by synthesis method on the latest generation of sequencing devices, the NovaSeq 6000 or the MiSeq instrument. Sequencing Coverage is depending on the respective application and research question.
3
We provide browser-based tools for the interpretation of small molecular genetic changes:
- bcl2fastq (Demultiplexing)
- Isaac Aligner (Alignment)
- Pisces (somatic Variant calling: SNV)
- Starling (germline Variant calling: SNV)
- Pindel (delins <50bp)
- Nirvana Annotation Engine (automated SNV annotation/Variant interpretation)
- MLL pipeline for manual Variant interpretation within our hematological Panels