What sequencing platform and bioinformatics pipeline do you use?

Sequencing conducts 150 base pair paired end 30x whole genome sequencing using both Illumina platforms and MGI DNBSEQ-T7 genome sequencers. These state-of-the-art systems are recognized for their accuracy, consistency, and ability to deliver high quality genome data at full coverage.

For analysis, Sequencing has developed a custom bioinformatics pipeline refined through years of laboratory experience. This pipeline integrates best practice tools such as DRAGEN, GATK, and ISAAC along with proprietary enhancements developed in-house. The result is precise alignment, variant calling, and rigorous quality control across the entire genome.

Our process includes:

Alignment of reads to the GRCh38.p14 reference genome plus rCRS MT for mitochondrial DNA
Variant calling for single nucleotide variants, insertions and deletions, copy number variations, and structural variations
Multiple quality control checkpoints to ensure high accuracy and reproducibility

This combination of Illumina and MGI sequencing platforms with a carefully optimized bioinformatics pipeline allows us to deliver reliable data files and reports ready for research, clinical interpretation, and personal discovery.

Frequently Asked Questions

Which sequencing platforms are used?
We use Illumina sequencers and MGI DNBSEQ-T7 genome sequencers, both recognized for their ability to generate accurate and consistent data.

Which bioinformatics tools are part of your pipeline?
Our pipeline combines DRAGEN, GATK, and ISAAC with proprietary enhancements built by Sequencing.

What reference genome do you use?
We align data to the GRCh38.p14 reference genome plus rCRS MT for mitochondrial DNA.

What types of variants are detected?
Our pipeline identifies single nucleotide variants, insertions and deletions, copy number variations, and structural variations.