What sequencing platform and bioinformatics pipeline do you use?

Whole Genome Sequencers

Our Whole Genome Sequencing services include 150 bp paired-end read 30x whole genome sequencing performed using next-generation Illumina HiSeq X and MGI DNBSEQ-T7 genome sequencers.

Proprietary Bioinformatics Pipeline

Raw sequencing data is analyzed using our own specialized bioinformatics pipeline. Under the hood are hyper-optimized versions of BWA-MEM2 for genome alignment and SamTools for variant calling. The pipeline is integrated throughout with proprietary software.

Data is aligned to reference genome GRCh38.p14 + rCRS.

Exceptional Genome Quality

Since 2015, Sequencing.com has been building bioinformatics platforms and analysis services for genome sequencing laboratories throughout the world.

These pipelines have used a diverse range of aligners and callers from the obscure to those that are more mainstream, such as DRAGEN, GATK and iSAAC.

We used our years of experience developing genome analysis pipelines for others to build our own pipeline for our Ultimate Genome Sequencing service.

While others may optimize their pipelines for speed, we optimized our pipeline for data quality. So while it may take longer (8 hours to process a single genome), the data quality generated by our pipeline is exceptional.