What sequencing platform and bioinformatics pipeline do you use?

Sequencing conducts 150 base pair paired end 30× 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 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 reference genome.

• 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, together 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.

What reference genome do you use?
We align data to the GRCh38 reference genome.

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