Genome Explorer

Discover, Learn and Explore Your Genome

Genome Explorer is the world's first online browser and search engine for your genome.

 

Explore the association between your genetic data and diseases, conditions, traits and medication reactions.

Works with DNA data from any genetic testing including

  • whole genome sequencing (Dante Labs, Nebula Genomics, GeneDx)
  • exome sequencing (Ambry Genetics, LabCorp, Quest)
  • arrays (23andMe, AncestryDNA, FamilyTreeDNA, MyHeritage, Living DNA, GSA, etc.)

Compatible with data aligned to any reference genome including GRCh38, hg19/GRCh37 and hg18/GRCh36.

 

The search engine for your DNA

With Genome Explorer, you can view and browse your DNA data. You can also easily sort, filter and search your data.

Use Genome Explorer to search your DNA by:

  • gene
  • rsid (ncbi SNP ID)
  • chromosome
  • position
  • condition (diseases, syndromes, traits and medications)
  • variant category (pathogenic, likely pathogenic, drug response, likely benign, benign, conflicting significance)
  • review status (from half a star to four stars)

 

Enhanced compatibility supports all genetic data variations including

  • SNPs / SNVs (Single Nucleotide Polymorphisms / Variants)
  • INDELs (Insertion and Deletion Variants)
  • CNVs (Copy Number Variations)
  • SVs (Structural Variations)
  • MITO (Mitochondrial Heteroplasmy)

 

Upload Your DNA Data

It's easy to use Genome Explorer. To get started, upload your raw DNA data or order a DNA test.

  1. Go to the Upload Center and choose one of the options to upload or import your raw DNA data into your Sequencing.com account.
    • Skip this step if your genetic data is already stored in your account.
  2. Start this app by clicking the 'Start' button.
  3. Select the DNA data file that's now stored in your Sequencing.com account and click 'Submit'.
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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 Plus provides additional information relating to diseases, conditions, traits and medication reactions.

 
Upgrading to Genome Explorer Plus is $4.99 per file for 30 days
  • After purchasing the upgrade to Plus for a file, you'll be able to use the Plus version with that file for the next 30 days.
  • The plus version expires after 30 days. You can then upgrade again to the Plus version at any time.

 

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. 

 
To upgrade to Genome Explorer Plus
  • Start this app (the free version of Genome Explorer)
  • Once your data loads in your Genome Explorer, click the option to upgrade to the Plus version
 

Genome Explorer vs Genome Explorer Plus

Genome Explorer is free and provides technical details about your genetic data. Each genetic variant (also referred to as SNP, SNV, DIP or InDel) from your file is listed on its own row along with the bioinformatic-related data about the variant (such as the gene, chromosome number, position on the chromosome, amino acid change (if there is one), etc. 
 
Genome Explorer Plus provides all the information available in the free Genome Explorer as well as information about diseases, traits, medication reactions and scientific studies. 
 
Genome Explorer Plus includes:

Condition

the disease, trait or medication reaction associated with the genetic variant

Interpretation

an indication of whether all available scientific studies and clinical data support the association between the variant and the condition

'Pathogenic' and 'Likely Pathogenic' indicate support for the association

'Benign' and 'Likely Benign' indicate that the variant may not be associated with the condition

Review Status

an indication of the amount of confidence for the Interpretation

Four stars = highest confidence that the Interpretation is correct

Half of one star = lowest confidence that the Interpretation is correct

this usually occurs when there is only one study about the association between the variant and the condition and therefore the Interpretation is based only on a single study

References

clickable link to each journal article that has been published about the association between the variant and the condition

Links

clickable links that take you directly to additional information (ClinVar) for each variant

This app allows you to explore your DNA data.

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.

Upload Your DNA Data

Genome Explorer is compatible with data from almost all DNA tests and genome sequencing.

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 Ultimate Genome Sequencing service. These tests can be purchased online.

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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
Ultimate Genome Sequencing SAM SV
(Structural Variations)
hg17 / GRCh35
Nebula Genomics CRAM MITO
(Mitochondrial Heteroplasmy)
 
Dante Labs VCF    
23andMe Genome VCF (gVCF and GVCF)    
AncestryDNA TXT    
MyHeritage CSV    
Genes for Good TAB    
Living DNA gz and zip compressed files    
HomeDNA almost all other genetic data formats    
FTDNA      
Silverberry Genomix      
Toolbox Genomics      
Full Genomes      
New Amsterdam Genomics      
24Genetics      
Vitagene      
Helix      
Genos      
tellmeGen      
GSA      
Axiom      
almost all other genetic tests

 

 

Genome Explorer is optimized for Sequencing.com's Whole Genome Sequencing test and Ultimate DNA Test.

Compare to 23andMe, Ancestry and similar that test less than 0.1% of your genome.

>
 

Ultimate DNA Test Kit

Ultimate DNA Test

Ultimate Genome Sequencing DNA Collection Kit

Ultimate Genome Sequencing

  ORDER NOW ORDER NOW
     
Discounted Price $69  $189 $399  $599
     
Amount of genome tested 1% 100%
     
Technology Enhanced Genotyping Microarray Clinical-Grade 30x Genome Sequencing
     

Bonuses

Silver Membership to Sequencing.com

(includes your choice of DNA analysis apps & reports)

Silver Membership to Sequencing.com

Wellness & Longevity Health Analysis

Healthcare Pro Report

Rare Disease Screen Analysis

Have a question about your data? Ask an expert.

Genetic Counseling app icon by DNAFeed provides access to licensed professionals and experts to ask any questions about DNA data, genome data, gene tests and results from 23andMe, Ancestry, MyHeritage, FamilyTreeDNA FTDNA, Dante Labs, Helix & LivingDNA.

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.

What data can be viewed with Genome Explorer?

Genome Explorer enables you to explorer all formats and types of genetic data without having to download anything to your computer. This includes the ability to view data from whole genome sequencing, exome sequencing and genotyping (DNA microarrays).
 
If you've taken a DNA test or had your genome sequenced, you can explore your data with Genome Explorer. This includes DNA data files provided by any genetic testing laboratory as well as genetic test providers such as 23andMe, Ancestry.com, MyHeritage, Genes for Good, FamilyTreeDNA, Dante Labs, Nebula Genomics and Full Genomes.
 
Genome Explorer is accessible using any browser on any device including tablets and phones.
 

Do I have to convert my data into a specific format before using Genome Explorer?

Genome Explorer is already compatible with the format that your genetic data is already in. You do not have to modify or convert your DNA data file in any way.
 
Sequencing.com's unique Universal Data Compatibility technology enables all genetic data formats to be fully compatible with all DNA analysis apps including Genome Explorer.
 
 

Will I be able to understand the genetic data that appears in Genome Explorer and Genome Explorer Plus?

Genome Explorer and Genome Explorer Plus are designed for people who are comfortable interpreting their own raw genetic data. Interpreting your own data can become technical at times so it isn't for everyone.
 
If you find the data difficult to understand or simply want to learn actionable information about your genes, there are a wide range of apps in the marketplace in the Wellness, Nutrition, Fitness, and similar categories. These apps are designed to provide clear solutions for optimizing wellness and lifestyle.
 
 

How can I ask questions and get help for understanding my data? Is there anyone I can ask?

Yes, assistance is available from a certified genetic counselor. To speak with a genetic counselor, please use the Genetic Counseling app.
 
 

What's the difference between Genome Explorer and Genome Explorer Plus?

For information about Genome Explorer Plus, please click on the 'Genome Explorer Plus' tab on this page.
 
 

Why are genes or genetic variants missing?

When viewing any version of Genome Explorer, only the raw data contained within your genetic data file will be displayed. If a gene wasn't tested for, data on that gene won't be displayed.
 
This doesn't mean you don't have that gene! Instead, it means your DNA test didn't provide results for that gene.
 
This occurs because some types of DNA tests only test a part of your genome instead of your whole genome. Tests performed by the following test providers only test a part of you genome: Ancestry.com, 23andMe, MyHeritage, FamilyTreeDNA and similar companies.
 
Testing your entire genome, which means sequencing all of your genetic data, is called 'Whole Genome Sequencing'. Only whole genome sequencing will provide data on all of your genes. Learn more and compare genome sequencing services.
 
 

Why is there missing data for some genetic variants?

If information appears to be missing from a row then this means the information doesn't exist for that specific variant.
 
For example, a variant may exist within a gene and therefore the 'Gene' column will be blank. Another variant may not have any known condition associated with it and therefore the 'Condition', 'Interpretation, 'Review Status' and 'References' columns will be blank.
 
 

When I search for a gene, why do the results show a different gene?

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.

 

Why does Genome Explorer show data that I can't find in my data file?

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.

 

If I see a disease listed, does it mean I'm at risk for that disease?

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.

Example:

  • If variant rs123 is associated with Cystic Fibrosis, anytime data contain genetic testing results for rs123, even if the results indicate no-risk, Genome Explorer will include rs123 and will show that this variant is associated with the condition 'Cystic Fibrosis.'
  • On a technical level, if rs123 has reference allele C and alternative allele T then this means that Cystic Fibrosis risk is likely associated with the "T" allele. If the genetic testing results shown in the 'Genotype' column is 'CC' then there is no risk of Cystic Fibrosis due to variant rs123. But if the Genotype column is 'CT' or 'TT' then there may be a risk of Cystic Fibrosis.

Get help understanding your genetic data: Use the Genetic Counseling app to speak with a genetic counselor.

 

The word 'Pathogenic' appears in the 'Interpretation' column of my Genome Explorer. Does this mean I'm at risk for the condition?

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.

 

Why is my SV (Structural Variations) VCF incompatible?

SVs are very complex genetic variations. Sequencing.com is compatible with the most modern way of representing SVs in a VCF file. If your SV file is not compatible with Genome Explorer, it is most likely because your the file was produced using an alternative data structure.
 
For example, we've identified SV VCFs generated by Dante Labs with 'WGZ' in the filename, such as *.wgz.sv.vcf.gz, use an alternative data structure to represent SVs. Because of this, most SV files with WGZ in the filename was incompatible with Genome Explorer.
 

Why does my data sometimes reload when I access Genome Explorer again?

Sequencing.com's Bioinformatics Team releases updates to Genome Explorer on a weekly basis. Some of these updates require the genetic data from your file to 'reload' in your Genome Explorer. This helps ensure you always benefit from the most up-to-date version of Genome Explorer.
 
Reloading of data in your Genome Explorer is both free and fully automated. It will occur only if there has been an update since the last time you accessed your file's data using your Genome Explorer.
 
 

Definitions of the values in the 'Interpretation' column.

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.
Pathogenic  

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.

not provided

 

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:

  • "literature only" submissions that report a publication about the variant, without interpreting the clinical significance
  • "research" submissions that provide functional significance (e.g. undetectable protein level) but no interpretation of clinical significance
  • "clinical testing" or "phenotyping only" submissions from clinics or physicians that provide additional information about individuals with the variant, such as observed phenotypes, but do not interpret the clinical significance
Landrum MJ, Lee JM, Benson M, Brown GR, Chao C, Chitipiralla S, Gu B, Hart J, Hoffman D, Jang W, Karapetyan K, Katz K, Liu C, Maddipatla Z, Malheiro A, McDaniel K, Ovetsky M, Riley G, Zhou G, Holmes JB, Kattman BL, Maglott DR. ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res. 2018 Jan 4. PubMed PMID: 29165669.

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.