A second reading of your Sequencing.com genome

What Sequencing.com gave you

Its whole-genome bundles are built on 30x sequencing in a US clinical laboratory and, on its own product pages, deliver the raw data in "standard genomics formats (FASTQ, BAM, and VCF)", the BAM "GRCh38 aligned" and the VCF "covering SNVs/SNPs, INDELs, CNVs, SVs, and mitochondrial variations". Every bundle also includes Sequencing.com's own screen, described as an analysis of "15,000+ rare diseases and medication reactions", and access to a marketplace of further apps. The files are downloadable from your account.

So this is not a case of a file nobody has read. It is a case of one reading. The question is what a second, independent one adds.

What a second reading adds

Three things, and they are the things this service is built around. First, the panel is fixed and named: every gene, condition and trait we examine is listed on one page, with counts, before you pay, and the report is built from those and nothing else. Second, every finding is attributed to the source it was restated from, and the version of each source, ClinVar, ACMG SF and CPIC among them, is pinned and printed on the report, so a result can be checked back to the guideline that produced it. Third, the report distinguishes what it found from what it could examine. A variant-only VCF cannot tell "you are clear" from "nobody looked", so a clean result from it is reported as absent, never as examined and clear.

The BAM turns absence into a measurement. Deep Read counts the bases covered at 10x or better across every region of the curated panel, so each gene comes back examined, partly examined, or not measured, and it resolves CYP2D6 copy number, calls two recurrent deletions from depth, types HLA-DQ, and drives the 29-gene pharmacogenomic panel to CPIC star-allele resolution. It ends in a one-page hand-off for a prescriber. Where the reads are too thin for a gene, the panel declines that gene rather than calling it.

What we do not do is compete on breadth. Fifteen thousand conditions is more than this report will ever list. Ours is the narrower reading that tells you where it looked, which is a different product, and for a file you already own, an inexpensive second opinion.

How to get your files out of Sequencing.com

1. Sign in to your Sequencing.com account and open the file area for your genome.
2. Download the VCF. It is the small file and the one the full report needs.
3. Download the BAM and its index (.bai) if you want the Deep Read panel. It is tens of gigabytes; give it a wired connection.
4. Upload them here as delivered. Do not rename, unpack or convert them.

Sequencing.com's products and download process are described from its public pages on 3 September 2026 and may change. We do not speak for Sequencing.com.

Your files do not leave the EU

Processing and storage are in Finland, under GDPR Article 9 special-category protection, and nothing crosses an EU border. The VCF you upload is deleted after analysis by default; the BAM slices are deleted the moment the Deep Read run finishes, whether it succeeded or failed. With your consent, and only if you want re-analysis later, we keep a small normalised variant file that you can delete from your dashboard at any time. Security & your data.

Common questions

Sequencing.com already gave me a report. What is different here?

Sequencing.com's bundles include its own screen across a very large number of conditions, and you can add apps from its marketplace. Aimosti is a second reading by a different service, of a fixed and named panel, against pinned versions of ClinVar, ACMG and CPIC that are printed on the report. It is narrower on purpose and it says where it looked. The two are not substitutes; a second opinion on the same file is the point.

Which file do I upload?

The VCF for the full report. Add the BAM if you want the Deep Read pharmacogenomic panel, which reads CYP2D6 and 28 other genes from the reads and measures how much of each gene was covered. The FASTQ is not used. The file check below names any of them without uploading a byte.

Is my Sequencing.com BAM on GRCh38?

Its product pages say the BAM is GRCh38 aligned, which is the build the Deep Read panel runs on natively. The file check reads the build from the header regardless, so an older file on GRCh37 works too and is lifted first.

Do you take the whole BAM?

No. The browser reads your BAM's index, works out which byte ranges the 29-gene panel and the coverage map need, and uploads only those: about two percent of a 30x genome. The rest never leaves your disk.

Do you keep my genome?

The uploaded VCF is processed and stored in Finland and deleted after analysis by default. Reads for the Deep Read panel are deleted the moment the run finishes. Nothing leaves the EU.

Sequenced elsewhere? Dante Labs files · Nebula and DNA Complete files · Nucleus files · What your reads add, whoever sequenced you