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It is actually incredible that only 1% of the human genome consists of coding gene sequences. Therefore, focusing on the exome allows an in-depth view of genetic changes that are likely to show functional effects.
What we offer
With the whole exome sequencing (WES) workflow, we at MLLSEQ want to be standardized, yet flexible, so we have established various library preps that run together in a single hybridization capture workflow and we are proud to share a couple of details about it with you.
We use different approaches for the Exome library prep:
- TruSeq DNA Nano (sonication, amplification, Illumina)
- Illumina DNA Prep (tagmentation, amplification, Illumina)
- xGen Prism DNA (for cfDNA and FFPE, no fragmentation, amplification, IDT)
- xGen Exome Research Panel v2 and xGen hybridization capture workflow (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.
Usually, a tumor-normal comparison is recommended in exome sequencing assays, however for specific questions, sequencing without a Normal control might be informative.
- bcl2fastq (Demultiplexing)
- Isaac Aligner (Alignment)
- Pisces (somatic Variant calling: SNV)
- Starling (germline Variant calling: SNV)
- Nirvana Annotation Engine (automated SNV annotation/Variant interpretation)
- cnvkit (Variant calling: CNV)