Download your Helix Exome+ Full Data Set

Available for already-sequenced Helix users

Download your Helix Exome+ data (your Full Data Set) in the form of a gVCF file in order to gain access to all of the sequencing data from your full exome.

Your Full Data Set is your sequenced DNA that Helix derived from your saliva sample and stores for you to use with DNA Products. It consists of your Exome+ data, but it does not include interpretations of your data. If you choose to purchase your Full Data Set, it will be provided to you in a form that you can download. Helix makes the data available as a gVCF file. The Helix Exome+ gVCF includes formatting that is specific to Helix, as described in the Data File Format document.

What you do with your Full Data Set is up to you. It is important to note that your Full Data Set may have limited practical use as this file format is not designed to be read and understood by most people (see image above).

To gain understanding or potential value from the dataset requires additional tools and/or individuals who specialize in reading this data. Importantly, health care providers are typically not equipped to use or interpret your Full Data Set, unlike reports from clinical labs or Helix Partners.

For more information on gVCF files, visit GATK, gvcftools, and Illumina. Helix encourages you to review the Data Download Consent that describes in more detail the benefits, risks, and limitations associated with getting your Full Data Set.

There is a fee to access your Full Data Set. That is because the cost of the Helix DNA kit does not reflect the actual cost to sequence your DNA. The fee for you to download your Full Data Set reflects the value of this type of raw data set and the investment incurred by Helix to sequence and store your Genetic Information. This fee does not include the addition of any other products in the Helix Store beyond what you have already purchased.

Exome+ Data

May take up to 48 hours before download is available if additional analysis is required.

$0.00

your price: $0.00
Once your Full Data Set is ready to download, we’ll send you an email and let you know.

What’s included

Summary of all genotypes (A, G, T, C) and no-calls across the Exome+ in a gVCF file.

What’s not included

  • › Interpretation of variants
  • › Risk assessments
  • › Summary reports
  • › Support to interpret your dataset
  • › Access to new apps beyond what you have previously purchased

  • What is Exome+?

    The Exome+ assay is a DNA sequencing technique that captures the ~22,000 genes included in the exome, in addition to hundreds of thousands of non-coding SNPs and the mitochondrial genome. The assay has been optimized for extensive coverage of its targets, using customized tools to enhance capture of traditionally hard to sequence regions and boosted coverage of ~6,000 medically relevant genes. Exome+ includes regions of DNA that fall outside of the exome but are relevant to findings from genome-wide association studies, are informative for ancestry assessment, or improve opportunities to identify gene variants statistically linked to a trait.

  • What are the Limitations of Exome+?

    Exome+ is not a whole genome. While we provide deep and broad coverage of both exonic regions and several hundred thousand non-coding regions, this assay covers ~2% of the entire genome.

    Exome+ does not perform equally across all regions of the exome. Regions that are hard to sequence, such as areas of the DNA that are high in GC content or that have low complexity, may not have robust coverage.

    All observed variants are assigned a flag based on confidence of that variant call. While Exome+ represents a clinical grade exome, only variants flagged as PASS, suggesting the highest confidence, are clinically validated and within the analytical range. Therefore, only PASS variants are qualified to be included in reports intended to be used for health-related interpretations.

    Individual variants have not been confirmed using an independent technology. Despite the high overall sensitivity and specificity of this assay, as described in our White Paper, it remains possible that individual variants may be missed or incorrectly called on rare occasions.

  • What are the Risks of Exome+?

    You should always be careful about where, how, and with whom you share your Genetic Information, including your Full Data Set.

    Tools exist outside of Helix that allow you to upload your data and look more closely at parts of your Full Data Set. As with any service, you should inquire about the security, privacy, quality, usability, and support offered by the services prior to sharing your Full Data Set.

    By taking your Full Data Set to a third party interpretation service, you may learn information that you’re not prepared for or expecting. You could find out that your family’s ancestry is different from what you believed. You could also learn information that may impact your understanding of your health and/or the health of your relatives. More details are available in the Data Download Consent.

    Using third party tools to analyze your Full Data Set does not replace interpretations performed by qualified professionals. Further, health care providers may not be equipped to discuss the output of your Full Data Set once interpreted.

Questions

  • What do I get once I purchase my Full Data Set?
    A gzip compressed gVCF file (an estimated 300 to 400 megabytes) can be downloaded upon purchase. When uncompressed, the full data set is over 2 gigabytes. This file contains a computer-readable list of genotypes (A, C, T, G), genotype likelihoods, and more. See the Data Download Consent for more information on the content of this file.
  • What are the file formats provided?
    Buying the Full Data Set delivers a gVCF file for an individual. BAM or FASTQ files are currently unavailable. See the Data File Format document for more information on the content of this file.
  • When do I get my data after purchase? Why might it take a couple days?
    In most cases, these data are immediately available upon purchase. However, if the sample was sequenced and analyzed prior to a significant update in our analysis tools, the data will not be available for up to 48 hours while we reanalyze the existing sequencing results using a more current analysis pipeline.
  • Will my data be run on Helix’s most recent analysis pipeline?
    While Helix constantly works to improve the analysis pipeline, your Full Data Set reflects the analysis conducted on your sample at the time you purchased a product and may not be delivered on the most recent analysis pipeline released. Only in the case of significant analysis improvements do we ensure that the data you download reflects advancements that occur after your data’s initial analysis. Reanalysis of your data to ensure that they reflect these improvements can result in a short delay before the data is ready. You can find the pipeline version in the gVCF header to determine which analysis pipeline was used to generate your Full Data Set. If we later produce an updated version of your data, we will make this version available to you.
  • What can I do with my uninterpreted Exome+ data?
    The Exome+ is delivered in the gVCF file as uninterpreted data. Uninterpreted, the data appears as a string of genotypes (A, G, T, and C). What you do with your Full Data Set is up to you. You may choose to donate your data to research. You may choose to upload it to a third party interpretation tool (see Risks above, more detail in the Data Download Consent). You may simply choose to keep the data stored.

    To interpret the genotypes or sequence, meaning how they relate to a disease or a trait, generally requires a two-step process. The first step is to identify the variant from the gVCF file, which generally requires bioinformatics expertise. The second step is to interpret the variant to understand its impact (e.g., Does it cause disease? Does it predict a trait?).
  • What might I unexpectedly learn from my Exome+?
    Exome+ results may lead to interesting and sometimes unexpected findings. For example, you could discover that you have increased risks of certain conditions, including those that may not be preventable or treatable. You could get results that are unclear and confusing because the science has not progressed sufficiently to explain them. You could learn that your ancestry is different than expected, or that you were adopted. Since you share DNA with your blood relatives, these learnings could also affect them. You may want to discuss your options with a medical professional (for instance, a genetic counselor) before or after you get your Full Data Set. For more information, see the Data Download Consent.
  • With this purchase, will I be able to access updates to my data?
    When you pay to download your Full Data Set, you will be able to download the most recent version of your data that we have stored at that time. If we later produce an updated version of your data, we will make this version available to you.
  • What is the Helix Laboratory Platform?
    The Helix Laboratory Platform is a highly automated process for generating robust and accurate sequencing results. The Helix Laboratory Platform is CLIA certified (#05D2117342) and CAP accredited (#9382893). A CLIA-certified lab meets certain quality standards under the Clinical Laboratory Improvement Amendments of 1988, including qualifications for the individuals who perform the lab processes and other standards that ensure the accuracy and reliability of results. Helix utilizes a Quality Management System that employs lean manufacturing and Six Sigma methodologies to ensure reliable processes around DNA isolation, library prep, enrichment, sequencing and bioinformatics. This allows us to generate reproducible, accurate, and high quality sequencing data.