Genome Sequencing for the Public
Just a few years ago, the ability to sequence the entire genome of an organism, even one as simple as bacterium, was the dream of every molecular biologist. But for many, it was only a dream. Now, the technology has advanced exponentially, to the point that genome sequencing has become a common methodology in many molecular biology and biochemistry studies.
Next-generation sequencers are already prevalent in several labs in the world, so much so that it has already become available to the public for non-research purposes.
In fact, Full Genomes Corporation is a company whose objective is just that—To make genetic sequencing technology available for the direct to consumer market focusing, at this point, on the Y chromosome.
Full Genomes uses Illumina's HiSeq X next-generation sequencing platform to offer low cost whole genome sequencing. Below are some of the services the company provides along with the analysis:
- 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)
Most research labs have to pay thousands of dollars to proceed with whole genome sequencing. For the company, it was able to bring this down to well under $1,000. In fact, packages are offered starting at just $330 if you include interpretation. That drops to $280 if you don't include the interpretation. That's still a bit of money, but it is at least possible for the everyday individual to take advantage of genetic sequencing.
When used at scale, they can deliver a $1,000 genome, including DNA extraction, library preparation, interpretation, and estimated labor for a typical high-end genomics laboratory.