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MyHeritage Introduces a Low-Pass Whole Genome Autosomal DNA Test & Why It Matters

Roberta Estes

Another first for MyHeritage!

MyHeritage, Ultima Genomics, and Gene by Gene, the parent company of FamilyTreeDNA, have jointly announced that MyHeritage is introducing a Whole Genome Sequence (WGS) test using equipment produced by Ultima Genomics. MyHeritage DNA tests will continue to be run in the Gene by Gene Genomics Testing Center in Houston, Texas.

MyHeritage expects to process more than one million DNA tests annually, which is GREAT for genetic genealogy.

You may have heard about whole genome sequence tests before and wonder why this is a big deal. There are several reasons!

All Whole Genome Tests Are Not the Same

Not all whole genome sequence tests, abbreviated WGS, are the same, and MyHeritage has overcome substantial hurdles.

The human genome consists of roughly 3.2 billion base pairs, and most of the human genome is the same between all humans. Traditional autosomal tests target roughly 700,000 of the locations known to be least similar.

Whole genome tests don’t target specific locations, but scan the entire genome, using an entirely different technology. Think of an airplane or a drone flying over your genome.

In whole genome sequencing, we refer to “passes” and “depth”, meaning how many times the genome is scanned (passes), and how many times each location is successfully read (depth). The higher the number of passes, which increases the depth, the higher the cost, not just of the scan but of combining and aligning the data into usable information.

The reason WGS uses multiple passes is because even the most reliable technology is going to miss some things. It’s the nature of the beast.

Even with a 99.99% accuracy rate, which isn’t achieved, more than 320,000 locations would either be missed entirely or reported with erroneous values.

Scanning once would be called a 1xWGS, or one-pass whole-genome sequence.

Clinical or medical-grade whole-genome tests are 30x or greater. That’s important, because diagnoses are based on the results. Those tests are typically ordered by your physician, but you can order them individually from specialized providers.

To make WGS testing even remotely affordable for consumers, enough information needs to be extracted from the lowest number of passes possible.

For several years, direct-to-consumer (DTC) whole genome tests have been available from a number of third-party companies, but none came with Y-DNA, mitochondrial DNA, nor autosomal files, nor with matching. For genealogy, a file without matching capability is useless. In other words, if you really wanted a whole genome sequence, you could purchase it, but it was piecemeal and “some assembly was required.”

One of the challenges has been that for a quality read, the resulting file size generated was prohibitive for storage. I have taken a WGS test, and the results were literally shipped to the customer, for an additional charge, on a hard drive.

The other challenge was cost. Some vendors charge for just the sequencing, but you purchase results from a secondary menu.

Needless to say, none of this is useful or practical for genealogy.

This is exactly why the MyHeritage introduction is important. Through a unique combination of innovation and partnerships, MyHeritage found a way to reach the critical tipping point that makes WGS technology both affordable and available for all genealogists.

While MyHeritage does not provide Y-DNA or mitochondrial DNA testing, they provide world-class autosomal testing with matching, ethnicity results, Theories of Family Relativity, triangulation, and much more.

Moving to a WGS platform opens the door for future innovation beyond what we know today.

My Hope

My fervent hope is for increased granularity, meaning that matching might eventually reach further back in time, and ethnicity can be improved and become more specific. MyHeritage did not say that – it’s me hoping out loud.

Of course, both of those features would rely on enough people testing on the new platform so that areas not currently harvested by traditional technology become available for analysis.

What’s out there, waiting? I don’t know, and neither does MyHeritage. But someone has to be the first pioneer, and MyHeritage, never afraid of a challenge, has stepped up and stepped out.

What About Compatibility?

MyHeritage did not make this move quickly or take it lightly. You can read their 2020 study describing matching using 1x low-pass sequencing, here.

All vendors, over time, change the underlying chips and technology. They have no choice, because their vendors upgrade and make changes too. That’s also why some vendors are more, or less, compatible with other vendors. In some cases, the resulting DNA file incompatibility is too great, meaning too few of the same locations are tested, and vendors who accept uploads don’t accept some versions from other vendors.

MyHeritage would never adopt a platform that was incompatible with their existing customers’ tests, so the new WGS test is backward compatible.

Imputation is a technology that has been used for years in the genetic genealogy industry, to “equalize” files that don’t test exactly the same locations, and although they don’t say, I’m sure some type of imputation will be used here as well.

My Experiment

Let me tell you what I’m going to do.

I’m going to order a new MyHeritage DNA test so that it will be processed on the new equipment.

After the results are uploaded, I will compare matching and the other MyHeritage DNA features between my current and the new WGS test. How does that sound?

Customers can toggle back and forth between different tests at MyHeritage, so you can do this too.

Will Other Vendors Follow Suit?

Not all vendors are as transparent as MyHeritage about their technology, so there’s really no way to know about specific vendors unless they publish their information.

I do know that low-pass WGS would not be conducive to some types of tests. For example, Y-DNA testing that relies on either targeted location reads or multiple reads of every location to produce precise haplogroup calls would not scale well, and neither would mitochondrial DNA. Some Y-DNA locations are read as many as 35 times.

Each vendor has to make their own decision based on their own products, criteria, and customer needs.

Uploads From Other Vendors

You might have noticed a few weeks ago that MyHeritage stopped accepting uploads from other vendors. This might be a hint as to why that decision was made.

You’re always better off taking the test of the vendor where you want to work with matches. The vendor’s own test will always be more accurate when using their products and matching.

Downloading Your New File From MyHeritage

In their press release, MyHeritage committed to providing a file download in a CRAM file format. A CRAM file stores only the differences between a sequence and its reference genome, which means it’s substantially smaller than an entire whole genome. How large is it? I have no idea, but we will see.

Uploading to Other Vendors

Will you be able to upload your file to other vendor sites? I don’t know the broader answer to that question but neither Ancestry nor 23andMe accept any uploads.

FamilyTreeDNA says they are preparing to accept the new MyHeritage file uploads by year-end.

Ordering New Tests

Some MyHeritage tests are already being run on the new WGS machines, but beginning today, all MyHeritage tests will be WGS tests. (Update – MyHeritage has clarified that only kits arriving in the lab in January 2026 are guaranteed to run on the WGS machine. So if you order now at the sale price, wait to mail it back until January.)

Existing tests purchased in the past will not be rerun. Unless the customer has paid for the MyHeritage biobanking service, MyHeritage does not store your DNA after processing, so they can’t reprocess your DNA.

MyHeritage DNA tests, typically $89, are on sale for $36 right now, so there has literally never been a better time to purchase a MyHeritage DNA test. Click here to purchase.

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