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The $2,000 "Whole Genome"
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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.

 
• Category: Science • Tags: Whole Genome Sequencing 
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  1. I’ve got the $2000, but what am I going to do with it after I get it?

  2. For the layman interested in ancestry mainly, will this service provide much more information than 23andme currently does?

  3. Could a company not based in the USA, and presumably outside the reach of the FDA, provide the service that 23andMe used to provide? Namely medical analysis of SNPs via the web?

    Or would the FDA somehow block access to them via the internet?

  4. I was looking for consumer prices for whole-genome sequencing. There are a lot of estimates floating around about costs (eg Illumina’s been claiming $1k for the past year), or about wholesale prices, or about prices researchers can get, but not so much about consumers. Knome apparently no longer even offers it to consumers.

    The one hard price I could find was https://www.genebygene.com/pages/dnadtc at $7.4k and Illumina was offering it after physician approval at $5k (according to http://www.theguardian.com/science/2013/jun/08/genome-sequenced ), so if Full Genomes delivers (which https://www.kickstarter.com/projects/784741307/personal-genome-sequencing did not), it will represent a major effective price cut.

  5. I assume this is being run at BGI, but a search of their site didn’t confirm. List price on HiSeqX reagents is reportedly $1000 for a 30x genome, so $2,000 isn’t bad if you consider other costs associated with testing plus a middle man.

  6. #5, i think BGI. that’s what justin loe’s presentation at ASHG indicated.

  7. Anonymous • Disclaimer says:

    http://www.isogg.org/wiki/Full_Genomes_Corporation

    “This information is not yet available on the homepage and was given by Justin Loe in the Facebook page in December 2013.
    DNA: sent to BGI
    Data: data is stored where analyses are performed and in our site
    Data Access: not published, via website or direct delivery
    IDs: BGI and/or others only receive anonymous ids, not names”

  8. We’re doing the whole genome sequencing via Novogene Bioinformatics Technology Co in Beijing. For the Y chromosome sequencing product (i.e. 14 mb Y chromosome capture), we use BGI in Hong Kong.

    FGC
    CEO

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