January 01, 2016

Whole genome sequencing for $330 including interpretation

Full Genomes corporation is using Illumina's groundbreaking HiSeq X next-generation sequencing platform to offer low cost whole genome sequencing.

Full Genomes offers 10 times coverage whole genome sequencing for $725.

They provide the following:

  • BAM file (roughly 50 GB)
  • variant summary reports from SnpEff and VEP
  • autosomal and chrX variant identification (as two VCF files):
  • novel variants (annotated with SnpEff and VEP)
  • results for a set of over 100 million known SNPs from dbSNP build 142
  • mtDNA sequence (as FASTA file)
  • Y-DNA analysis (for males)

They offer 4 times coverage for $395

They offer 2 times coverage for $280

Interpretation of the BAM file costs $50.

Powering Population-Scale Human Whole-Genome Sequencing (WGS)

The HiSeq X Ten System is the most powerful sequencing platform ever created. The system consists of a set of 10 HiSeq X ultra-high-throughput instruments that deliver over 18,000 human genomes per year at the price of $1000 per genome. The HiSeq X Ten makes human whole-genome sequencing more affordable and accessible than ever before.

World’s First $1000 Human Genome

This sequencing solution is the world’s first to break the thousand dollar human genome barrier. Each HiSeq X System can sequence a human genome at 30x coverage or greater for significantly less than $1000 in consumables. When used at scale, the HiSeq X Ten delivers a $1000 genome, inclusive of instrument depreciation, DNA extraction, library preparation, and estimated labor for a typical high-throughput genomics laboratory.

Non-Human Species Expansion

HiSeq X Sequencing System customers can now apply population-scale sequencing to non-human species. The HiSeq X System delivers high coverage in a variety of areas, including agriculture and model organism research in the pharmaceutical industry. By providing ultrahigh throughput and an unprecedented price point per genome, the HiSeq X System now provides customers with an opportunity to reshape the economics and scale of whole-genome sequencing beyond the human species.

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