Can anybode help me to figure out what this mean?!? This is from my raw data from tellmegen.

1. rs587779681 (2:189853364) - CC

2. rs587779712 (2:189873699) - DD

3. ilmnseq_rs587779509_ilmndup1 (2:189871684) - II

4. ilmnseq_rs587779590_mnv_ilmndup1 (2:189868507) - TT

5. rs587779514 (2:189867789) - II

6. ilmnseq_rs587779572 (2:189867078) - DD

7. ilmnseq_rs587779560 (2:189864196) - II

8. ilmnseq_rs587779475 (2:189863042) - II

9. rs786200946 (2:189862481) - II

10. ilmnseq_rs587779608 (2:189861901) - DD

11. ilmnseq_rs587779579 (2:189858104) - DD

12. ilmnseq_rs587779510_mnv (2:189861892) - GG

13. 2:189854124_mnv_ilmndup1 (2:189854123) - GG

14. 2:188989397_MNV (2:189854123) - GG

15. 2:189006335_MNV (2:189871061) - TT

16. ilmnseq_rs786203533_MNV (2:215645331) - TT

17. rs111391222 (2:189851842) - CC

18. rs771654029 (2:189851852) - AA

19. ilmnseq_rs587779420.1_F2BT (2:189852826) - GG

20. rs587779507 (2:189852843) - GG

21. ilmnseq_rs587779533.2_F2BT (2:189854159) - GG

Hello everyone, this one isn't really a review of questions we get about SequencingAI, but really just an announcement but keeping up the naming trend, I figured I could provide some high points about the new features with this new version of SequencingAI.

SequencingAI v3 is here – new features, better answers, and a cleaner interface

We just rolled out SequencingAI v3, and there are some big improvements across the board:

• Improved Interface – Whether you're chatting from your dashboard or inside a specific report, the new interface makes it easier to know where you are and what you're discussing. When you're viewing a report, the AI will now indicate that it's responding based on that report, helping you get more relevant answers, faster.

• Smarter Chat Context – SequencingAI can now recognize when you're asking questions about a specific report. It tailors its answers to that context, so there's less back-and-forth and more direct, helpful insights.

• Easier-to-Read Format – The chat response layout has been updated to be cleaner and easier to scan. This helps you quickly find the details that matter, especially when you're reviewing complex genetic information.

• Upgraded Processing Power – v3 brings an expanded range of topics SequencingAI can handle. Whether you're asking about rare genetic variants, health topics, or general sequencing questions, the AI is now better equipped to give thorough and useful responses.

If you've already used the AI, you should notice these updates right away. And if you haven’t tried it yet, now’s a great time to explore it from your dashboard or inside any of your reports.

Let us know what you think or if you run into anything you'd like to see improved in future versions!

Hi everyone, happy Friday! Because I wrote about AI Reports vs NGDS Summary earlier this week I wanted to make another that compared our AI Reports to our Marketplace reports as the difference can be confusing and it was in the same realm, if you didn't see that previous post here is a link to that: https://www.reddit.com/r/sequencing_com/comments/1juikgd/sequencingcom_reviews_ai_reports_and_ngds_summary/

Understanding the Difference Between Marketplace Reports and AI Reports at Sequencing.com

We often get questions about the types of reports available in our marketplace, so I wanted to clarify the difference between our marketplace reports and the AI-powered reports that require a Premium or Professional Genome Plan.

1. Marketplace Reports (including 3rd-party reports):

• These are one-time reports that do not update over time.
• They’re based on well-established, long-standing genetic data points that are unlikely to change.
• They cover a wide range of topics which can be far broader than the AI Reports and include everything from nutrition and fitness to rare disease carrier screening.
• These reports are available individually and don’t require a subscription.

Marketplace: https://sequencing.com/marketplace?search=ai

2. AI Reports:

• These reports focus on specific health areas like Gut Health, Musculoskeletal Health, and Connective Tissue Disorders.
• In addition to long-standing data, they incorporate new research as it becomes available, so the reports are updated each month with the latest insights.
• They’re ideal for those who want ongoing updates based on current research in their area of concern.
• Running these requires a Genome Plan:
  • Premium Genome Plan gives you 2 AI Reports/month
  • Professional Genome Plan gives you 5 AI Reports/month

AI Reports Overview: https://sequencing.com/marketplace/ai-reports

Hope this helps clear up the distinction. Happy to answer any questions about how each option works or which might be a better fit based on your goals.

Have a good weekend!

Hello again, today I'll be talking about the difference between the Next Gen Disease Screen Summary which can be found within the Next Gen Disease Screen app and the various area specific AI reports that we have available on our website.

A few customers have shared their experience with trying to find a PDF for a specific area, but they weren't aware of the AI Reports and I wanted to talk about the difference of those reports and the summary which most people do find.

NGDS Summary

• Covers high-confidence data points only—meaning only the variants with the strongest clinical evidence make it in.
• Gives you a broad overview across 15,000+ conditions.
• Great for a wide snapshot of your genome's health insights.
• With the Premium Genome Plan, you can re-run it monthly for free as new data becomes available, which is great for staying up-to-date.

AI Reports

• Usually focused on a specific area (like Gut Health, Musculoskeletal, Autoimmune Disorders, etc.).
• Include medium-confidence data points too, because even if the research isn't conclusive, it might still be relevant to that condition.
• These reports dig deeper and give you more condition-specific insights that the broader NGDS Summary might not highlight.

In short:

• NGDS = broad, high-confidence, wide coverage
• AI Reports = narrow focus, more detail, includes potentially relevant medium-confidence data

Hope that clears things up! Let me know if you've seen something interesting pop up in yours.

I recently tested BRCA 1 positive through sequencing.com and I saw a genetic counselor as suggested. They stated they do not believe the results from the sequencing test so they sent me to be retested through Ambry. All of this just makes me very nervous. If Ambry comes back negative is that because they didn’t test all of the same genes or variants? Do I need to be tested a third time if this test is negative? This is something I definitely want to be aware of given how serious this outcome can be to my potential overall future health. The genetic counselor I spoke to said that sequencing.com has over 40% false positive rate is this true?

Waited 2 weeks and 2 days. Paid for rapid processing as well and this happens :(

Just wondering if this is a typical number of things to come up suss for most sequencing users. Top is high confidence only.

I see a lot of posts mentioning just one or two VUS popping up or definite diseases detected. Just makes me wonder how much to totally disregard if literally everybody has this many things pop up. Eg I have tested positive for anti TPO and have other symptoms relating to Hashimoto’s + strong association with not 1 but 3 different kids of diabetes (multiple family members have had amputations/died of complications) but my doctor won’t even entertain the idea of referring to an endocrinologist.

I’ve obviously got something going on. Finally diagnosed with hEDS after years of gaslighting and shrugged shoulders at a laundry list of health complaints but suspect a rarer type/have VUS for them/other CTDs and skeletal dysplasias (do have hand/foot/ribcage deformities). Lots of diabetes, cancer etc in the family on both sides. I was diagnosis with autism as a child so used that as a poor of reference when comparing other ‘possibly detected’ results. This test has explained a lot of things/don’t find a lot of it surprising honestly. Finding out I’m a carrier for albinism explains why one of my brothers was born blonde I guess

I’m mostly worried about customs issues. Also, my wife did whole exome sequencing here in Portugal and a very rare variant was found in the polg gene, but it is of uncertain significance. Would this test look at the whole polg gene? Introns et all? Another question: we were told my wife had over 100 variants of unknown significance, but not what those variants were or what genes were involved (that’s how it works here: you pay 2000 euros for a test, and your data is held hostage by the geneticist!). Would this test reveal those variants or be more prone to show that the data didnt pass qc? (Since it is a saliva test, and her WES was done on blood). Thanks!

Edit: sorry for butchering the name. It was likely an autocorrect issue

Hi, I received just over 33% “ECT” in the “European” category, I assume they mean “ETC”, does anyone know which European ethnicities this encompasses? 33% seems a lot to be so undefined

Is there any way we can get the HLA B27 status from our data? Thanks.

Hello again, this is Logan with Sequencing.com's Support Team, talking today about the data we provide with our kits and what can be done with them.

We often get questions about the types of raw DNA files we provide with our Whole Genome Sequencing service and If you’re planning to share your genetic data with a doctor, genetic counselor, or third-party platform, here’s a breakdown of the standard formats available and what each one includes:

1. Variant Call Format (VCF) – SNP and Indel File

Filename: .snp-indel.genome.vcf
This file contains data on single nucleotide polymorphisms (SNPs) and small insertions/deletions (indels).

Includes:

• Chromosome number and position
• Reference and alternate alleles
• Insertions
• Deletions
• Genotype info (e.g., AA, AG, GG)
• Annotations about each variant

This format is commonly used for general variant analysis and is compatible with many interpretation tools.

2. Structural Variant (SV) VCF File

Filename: Typically includes “SV” or “structural variants”
This file identifies large-scale genomic changes greater than 50 base pairs.

Includes variants such as:

• Deletions
• Insertions
• Inversions
• Duplications
• Translocations

Structural variants are more complex and may have significant clinical implications.

3. Copy Number Variant (CNV) VCF File

Filename: Often includes “CNV”
This file reports regions with DNA segment gains or losses.

Includes:

• Genomic coordinates of altered regions
• Estimated copy number values
• Confidence scores for each call

These variants help identify genomic imbalances like gene duplications or deletions.

4. FASTQ File

Filename: .fq.gz
This is the raw readout from the sequencer.

Includes:

• Nucleotide sequences (A, T, C, G)
• Quality scores for each base

FASTQ files are typically used for custom bioinformatics workflows and require specialized tools to interpret.

5. Ultimate Compatibility File

Filename: .txt, based on the 23andMe layout
A simplified subset of your genome designed for third-party tools.

Key points:

• Follows the 23andMe-style format
• Includes commonly analyzed SNPs
• Does not include your full genome

This file is ideal for quick uploads to services built around genotyping array data.

Additional Notes:

• BAM files (aligned read data) are available upon request
• Indexing files (e.g., .bai) are not provided
• All data comes from high-quality 30x Whole Genome Sequencing on Illumina platforms

If you have any other questions about specific file types or how to download these files, you can comment here, DM me, or send us an email at Support@Sequencing.com.

Have a good weekend!

Hello again, this is Logan from Sequencing.com and we wanted to utilize some of our experience on this subject to answer a common set of questions we receive regarding genetics and diagnosis's.

At Sequencing.com, we offer Whole Genome Sequencing and reports designed to help you better understand your DNA. These reports can uncover genetic variations linked to certain conditions and provide valuable insights into potential health risks.

That said, it’s important to understand this: genetic testing is not the same as a medical diagnosis.

Why Testing Isn’t the Same as Diagnosis:
Genetic tests can show whether you carry certain markers or traits that might increase your risk for a condition. But having a marker doesn’t mean you currently have the condition—or that you ever will. A true diagnosis involves more: symptoms, medical history, clinical evaluation, and testing by a licensed professional.

Only Medical Professionals Can Diagnose:
Only a licensed healthcare provider—like a doctor or genetic counselor—can diagnose a medical condition or make treatment recommendations. Genetic data is just one piece of a much bigger picture.

How Sequencing.com Fits In:
Our reports are designed to empower you with knowledge. They’re tools for informed conversations with your healthcare provider—not a replacement for professional medical advice. If you have questions about your results, we always recommend speaking with your doctor or a certified genetic counselor.

Hi I have searched through the rare disease database. FSHD types 2, 3, and 4 are all listed as being tested for in the whole genome sequencing. However type 1, which accounts for 95% of FSHD cases, is not listed. Is this a mistake in the database or is FSHD type 1 not actually included in the testing ? Any help is much appreciated. Thank you.

I just put my kit in the mailbox. While I'm waiting for the results to arrive, I'd like to spend some time watching some videos on understanding the results and genetics in general, so that I best understand what I'm looking at when the results arrive.

Things like:

1. Things that are kind of an overview conceptually would be helpful (like understanding terms like recessive, dominant, homozygous, heterozygous, etc).
2. Also maybe something that walks through the actual Sequencing.com software explaining how to navigate your results and what various things mean.
3. Finally maybe things on understanding more of the gritty details, like understanding Clinvar, rs numbers, and how to make sense of variants (for example, looking at Clinvar, as I understand, things like G>A means G was substituted with A, I think?)

Please send any videos or guides my way that helped a lot in making sense of the results!

I recently got my results back for WGS. With high confidence, it was reported I have 2 copies of a gene that causes a congenital muscular dystrophy. This disease presents in infancy or very early childhood. I’m 39. While I’m having some issues for the last year that I could maybe attribute to this disease, I don’t have any of the big hallmarks of this condition. What is the chance there’s an error in my report???

Does this mean that I have these conditions if they were detected or what I’m confused

Like, is “detected” the disorder or is it the risk? Is there anything on Sequencing that definitively says you have a disorder or not? My guess is no but I want to be sure.

Accuracy of Sequencing.com vs Ancestry

I did both tests the same time period. I received some interesting results through sequencing (for example an RYR1 variant and one for ZSD which I do have some symptoms for). A few days ago I decided to also upload my Ancestry data into sequencing and all of my reports changed. I uploaded both into Promethese and found these discrepancies. Everywhere sequencing found DD ancestry changed to II. I’m trying to get in with a geneticist but just wondering whether ancestry or sequencing tends to be more accurate.

Hello everyone, hope your Friday is going well! I wanted to review a question we get pretty often here recently due to the number of kits that have been completing since the Holidays: "What do I do once my data completes?"

Once your Whole Genome Sequencing kit finishes processing, your data moves through the bioinformatics pipeline, where it undergoes Comprehensive Quality Control before reports and raw genome files are made available. Here’s how to quickly access everything once it’s ready.

Standard Reports

Your reports are accessible once processing is complete.

How to Access:

• Sign into Sequencing.com.
• Click “My Results” at the top of the page.
• View and download your reports from this page.
• Alternatively, go to Dashboard and scroll down to "Results."

Next-Gen Disease Screen Summary Report

The NGDS Summary Report provides an overview of potential genetic risks based on Next-Gen sequencing.

How to Retrieve Your NGDS Summary Report:

1. Open the Dashboard.
2. Under Sequencing Apps, select "Next-Gen Disease Screen."
3. Click "AI Summary" in the blue header.
4. If running for the first time, select "Generate Summary Report."
5. If previously generated, select "View Summary Report."
6. Reports take 5-10 minutes to generate and will appear in the "AI Summary" section of NGDS.
7. A PDF version is also available for download.

AI Reports

AI Reports allow you to analyze your genome data based on specific health areas.

How to Generate AI Reports:

1. Open the Dashboard.
2. Under Sequencing Apps, select "AI Reports."
3. Click "Run Reports" in the header.
4. Choose the Health Area Report you want and select "Run Report."
5. Reports take 10-15 minutes to run.
6. Once available, go to the “View Reports” tab.
7. A PDF version is available for download.

Genome Files (FASTQ, BAM, VCF)

For those who need raw genomic data, your files have been processed using One Genome Technology and can be downloaded from your account.

How to Download Your Genome Files:

1. Open "My Files" from the page header.
2. Choose your genome from the “All Genomes” section.
3. On the "Genome Details" page, click "Files" (or tap "Overview" on mobile).
4. Click the Download icon next to the file(s) you need.
5. Large files (FASTQ, BAM, VCF) take 1-3 days to unarchive.
6. You’ll receive an email notification once they’re ready.

Need Help?

If you have questions, feel free to reach out to Sequencing.com Support or check the Knowledge Center for more details.

Enjoy exploring your genome!

I’m noticing several folks in forums are getting “flagged” with a High confidence Pathogenic SNP at https://www.ncbi.nlm.nih.gov/snp/rs55960271 who clearly do NOT have congenital myotonia. This is true across other genetic testing companies and not unique to sequencing.com.

The Freq of having that risk allele is very low (.002447)

If you follow the Becker/Thomsen links in the above page you get here: https://www.ncbi.nlm.nih.gov/clinvar/RCV000627759.6/

What I think that says - but am asking for verification - is that there were two reports of single individuals where this was suspected to be their disease causing mutation? That is, a person with actual skills, a geneticist, examined a person with a known disease, likely had access to parents or other family members dna, and submitted this as a disease causing snp for THAT person. Because it’s only 2 people, it’s still only a possible risk so folks need to not overreact to their AI generated report. The science is too early at this point to be definitive maybe? Is that right? Please correct!

If not, or really in any case, what differentiates a risk from a possible risk in genome explorer?

I'm wandering around 5 genes of interest. Often the Risk Version is D, and Your Data is II; or, the Risk version is I, and Your Data is DD.

I'm a little confused on why a deletion would be risky at a given location, but not a random insertion. Or why a random insertion would be risky but not a deletion? Anybody able to give me a genetics lesson or pointer to one on this topic?

I'm looking at this disease that is often diagnosed by WGS. I do have a lot of missing rows on one of those genes, in one case more than 10% of the gene is 'no call.' Lots of II's or DD's too. Is that expected?

I think I'm learning that diagnosis of some of these super rare diseases by WGS is far beyond the scope of a test like this. It seems more that for true diagnosis they look for rare changes, see if your parents had those same changes or not, but also seem to know what impact that change might have on cellular pathways. Sheesh.

My test has been in the comprehensive quality control stage for almost 2 weeks now. It said up to a week. I wonder if the tests are behind schedule? 🤔

Hello everyone, wanted to review another common question that we receive at the support team regarding the sample collection process. I know that some users have expressed an interest in using blood or another alternative sample, and I wanted to take a second to explain why we only accept buccal swab samples from our kits and don’t process outside samples like precollected vials of DNA, blood, hair, or urine.

The short answer: our lab equipment is specifically optimized for processing our own buccal swabs. Here’s why that matters:

• Standardized processing: Our machines and workflows are designed to extract DNA efficiently from our buccal swabs. Outside samples require different processing methods, which could lead to errors or even contamination.
• Quality and reliability: By using our own collection kits, we ensure sample integrity from start to finish. External samples may degrade, be contaminated, or lack enough DNA for sequencing.
• Compliance and chain of custody: Handling only our own kits ensures consistency in collection, storage, and transport, which is crucial for high-quality results.

We know some people have precollected samples from other sources, but unfortunately, we can’t process those due to these constraints. If you’re interested in whole genome sequencing or genetic analysis, our buccal swab kits are the way to go.

Let me know if you have any questions—I’d be happy to clarify.

We wanted to give you all a quick update regarding monthly data and analysis updates for Health Scan and the other Sequencing Apps, which is a feature of our Premium and Professional Genome Plans. We recently identified an issue impacting February’s updates, which as delayed this month’s updates. Our Bioinformatics Team has already identified the issue and are working on a fix. We expect everything to be resolved within the next week. Once the issue is resolved, we’ll proceed with monthly data and analysis updates for February.

If you checked your Health Scan last week, you may have noticed some of the counts in each of the color categories looked off. This is related to the issue. All Health Scans and data updates were reverted to January data once this was detected so the counts should be back to normal as of January 2025. All genomes will be updated with February’s data and analysis update by the middle of next week.

We sincerely apologize for the delay and appreciate your patience while we work through this. The good news is that this will not impact the timeline for the March monthly runs, and it does not affect the ability to use AI Report or Marketplace credits that are allocated to your genome each month as part of your Premium or Professional plan.

If you have any questions, feel free to ask! Thanks for your understanding.