The $2,000 “whole genome”

Full Genomes has some news:

The new year is starting off with a brand-new test offering from Full Genomes: whole-genome sequencing.

As a whole-genome sequencing (WGS) product, this represents the most comphrehensive genetic analysis available today and greatly expands the scope of our product line. We have recently completed a pilot study and the results are impressive, leading us to now officially launch this as a standard product; this will supplement our existing Y Elite and Y Prime tests, which target the Y chromosome and are only applicable to males. By using Illumina’s groundbreaking HiSeq X next-generation sequencing platform, we are able to provide high-quality WGS results at a best-in-market sub-$2000 price for individual customers.

Details of results delivery are still being developed and refined, but we are currently set up to provide the following:

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

In terms of the technical details of the underlying raw data, the sequencing produces:

  • 2 x 150 bp paired-end reads
  • approximately 30x average depth of coverage

Although Full Genomes is not providing any interpretation of autosomal and X chromosome results, the raw data are provided in a format compatible with a number of tools that provide the opportunity for in-depth analysis. Examples of currently-available online analysis tools include:

As with other Full Genomes products, this is intended for ancestry/research-use only, and should not be relied upon for medical or diagnostic purposes.

Interested customers can order the WGS product through the Full Genomes website here.

Happy SNP’ing!

The FGC Team

Readers are invited to put notes from other firms offering retail whole genome sequencing. I put quotations in the title since there will always be gaps in the genome because of limitations in the current technology. It’s important to emphasize that this is “30 x” coverage. So decent quality.

Posted in Uncategorized

Comments are closed.