Explore the association between your genetic data and diseases, conditions, traits and medication reactions.
Works with DNA data from any genetic testing including
Compatible with data aligned to any reference genome including GRCh38, hg19/GRCh37 and hg18/GRCh36.
Enhanced compatibility supports all genetic data variations including
|Version||Price||How to access|
|Free||$0||Click the 'Start App' button|
|Plus||$4.99 per file for 30 days||Upgrade within the Free version|
|Ultimate||$0 (Included with Membership)||Only available to Members|
Genome Explorer Ultimate
Genome Explorer Ultimate provides even more functionality than the Plus version. The Ultimate version is only available to Members.
Join our Membership Program to receive access to Genome Explorer Ultimate for all files in your account.
If your DNA data is not already stored in your Sequencing.com account, you can either import your data from a DNA test you've already taken or you can order a DNA test.
You've already taken a DNA test
You need a DNA test
|Upload your DNA data||Order a DNA test|
|Our Universal DNA Compatibility enables this app to work with DNA data from almost any DNA test.||Our clinical-grade 30x Whole Genome Sequencing test obtains data on 100% of your genome.|
If you've already taken a DNA test, use our Upload Center to import your DNA data.
If you haven't yet taken a DNA test, Genome Explorer works best with the results of Sequencing.com's Ultimate DNA Test and Whole Genome Sequencing test. These tests are available to be purchased online.
|Test Compatibility||Format Compatibility||Variant Compatibility||Reference Genome Compatibility|
|Whole Genome Sequencing (WGS)||FASTQ and FQ||SNP / SNV
(Single Nucleotide Variants)
|hg38 / GRCh38|
|Exome Sequencing||FASTA and FA||INDEL
(Insertion Deletion Variants)
|hg19 / GRCh37|
|Ultimate DNA Test||BAM||CNV
(Copy Number Variations)
|hg18 / GRCh36|
|Sequencing.com's Whole Genome Test||SAM||SV
|hg17 / GRCh35|
|23andMe||Genome VCF (gVCF and GVCF)|
|Genes for Good||TAB|
|Living DNA||gz and zip compressed files|
|HomeDNA||almost all other genetic data formats|
|New Amsterdam Genomics|
|almost all other genetic tests|
Compare to 23andMe, Ancestry and similar that test less than 0.1% of your genome.
|Ultimate DNA Test||Whole Genome Sequencing|
|BUY NOW||BUY NOW|
|Amount of genome tested||1%||100%|
|Technology||Genotyping Microarray||Clinical-Grade 30x Genome Sequencing|
Silver Membership to Sequencing.com
Silver Membership to Sequencing.com
The new Genetic Counseling app ensures you always have access to an expert. The app works on any mobile device or computer and provides 30 days of unlimited, secure online chat with a licensed genetic counselor or geneticist.
When you use the app, with a single click you can provide the Genetic Counselor with secure access to your DNA data file stored in your Sequencing.com account. You can also easily provide access to any app results you want to discuss, including your Genome Explorer.
Most gene names have aliases (also known as synonyms). For example, the BRCA1 gene is also known as BRCC1, BROVCA1, FANCS, PNCA4, PSCP and RNF53. Each of those names is an alias for the same gene. This can get pretty confusing!
Genome Explorer takes this into consideration and makes it easy to search using any alias. Simply search for any alias the gene is known by and Genome Explorer will always know what gene you are referring to.
For example, if you search for FANCS, Genome Explorer will know this is the same as the BRCA1 gene. The search results will show all of your data that's associated with the BRCA1 gene.
It's also important to point out that if you search for FANCS, the results will not show 'FANCS' in the Gene column. Instead, BRCA1 will appear. This is because BRCA1 is the most widely used name for this gene. (The most widely used gene name is also known as the HGNC Approved Gene Symbol.)
So if you search for a gene and a different gene name appears, it's because each name is an alias for the same gene. You can verify gene aliases at HGNC's GeneNames.org.
Some data files may not contain a rsid (also known as a rs#) for a variant. Instead, the file may identify the variant simply by it's chromosomal coordinate or the file may use an alternative identification system. Genome Explorer is very advanced and if a data file does not include a rsid for a variant, Genome Explorer will try to add this information.
For example, 23andMe files identify some variants by an i# instead of a rsid. While the i# is an ID system used only by 23andMe, the rsid is the ID used by all scientists throughout the world. Because the rsid is universally recognized as the standard nomenclature for variant identification, Genome Explorer will always try to indicate the rsid for a variant even if the original data file doesn't include the rsid.
While Genome Explorer always tries to assign a rsid to a variant, sometimes this is not possible. For example, a rsid may not appear for a variant because a rsid has not yet been established for that specific variant.
When you see a condition (disease, trait, medication reaction, etc. ) in Genome Explorer Plus, it doesn't mean you have an increased risk for that condition.
When a condition appears in Genome Explorer, it means that the genetic variant listed in that row has been associated in scientific research with that condition. Whether your genetic data indicates that you are at risk of that condition will depend upon the interpretation of your raw genetic data. Your raw genetic data is located in the 'Genotype' column.
Get help understanding your genetic data: Use the Genetic Counseling app to speak with a genetic counselor.
Genome Explorer does not perform any analysis about whether you do or do not have a risk for a condition. Because of this, Genome Explorer will not state that you are or are not at risk for any condition. Only the apps in the 'Health' category of the App Market provide analysis as to whether you are likely to be at increased risk of a condition.
When it appears in Genome Explorer, the term 'Pathogenic' is determined only by the variant, not by your genetic data. Everyone's Genome Explorer that lists that same variant will always show the same data in the interpretation column.
For example, if person A and person B both take 23andMe's DNA test and then they both use Genome Explorer to explore their DNA data, they will have the same list of genetic variants (because 23andMe performs the same test for everyone). While the results for each genetic variant will be unique between person A and person B, the list of variants will be exactly the same.
Since person A and person B will have the same list of variants, they will also have the same information in the 'Interpretation' column of their Genome Explorer. This is because the information in the Interpretation column is associated with the variant.
If 'Pathogenic' appears in the Interpretation column, this is because researchers have identified the variant as being associated with the condition. This is why the term 'Pathogenic' is used. The term Pathogenic does not mean that you have the variant or that this variant is harmful to your health.
The word 'Interpretation' and all the terms in that column such as 'Pathogenic' are official terms obtained directly from the NIH's ClinVar database. Please see the table at the end of this section for more information about the meaning of the terms in the Interpretation column.
Have a question about your DNA data? Use the Genetic Counseling app to get answers.
|Interpretation Value||Additional Information|
|Benign||As recommended by ACMG/AMP for variants interpreted for Mendelian disorders.|
|Likely benign||As recommended by ACMG/AMP for variants interpreted for Mendelian disorders.|
|Uncertain significance||As recommended by ACMG/AMP for variants interpreted for Mendelian disorders.|
|Likely pathogenic||As recommended by ACMG/AMP for variants interpreted for Mendelian disorders.|
As recommended by ACMG/AMP for variants interpreted for Mendelian disorders.
Variants that have low penetrance may be submitted as "Pathogenic"; please also include information about the penetrance in a "Comment on clinical significance".
|drug response||A general term for a variant that affects a drug response, not a disease. We anticipate adding more specific drug response terms based on a recommendation by CPIC.|
|association||For variants identified in a GWAS study and further interpreted for their clinical significance.|
|risk factor||For variants that are interpreted not to cause a disorder but to increase the risk.|
|protective||For variants that decrease the risk of a disorder, including infections.|
|Affects||For variants that cause a non-disease phenotype, such as lactose intolerance.|
|conflicting data from submitters||Only for submissions from a consortium, where groups within the consortium have conflicting intepretations of a variant but provide a single submission to ClinVar.|
|other||If ClinVar does not have the appropriate term for your submission, we ask that you submit "other" as clinical significance and contact us to discuss if there are other terms we should add.|
For submissions without an interpretation of clinical significance. The primary goal of ClinVar annotations within Genome Explorer Plus is to archive reports of the clinical significance of variants. Therefore submissions with a clinical significance of "not provided" should be limited to:
The genetic analysis and statements that appear in this app have not been evaluated by the United States Food and Drug Administration. The Sequencing.com website and all software applications (Apps) that use Sequencing.com's website, as well as Sequencing.com's open Application Programming Interface (API), are not intended to diagnose, treat, cure, or prevent any disease.