Showing posts with label Whole genome sequencing. Show all posts
Showing posts with label Whole genome sequencing. Show all posts

Tuesday, 14 October 2025

MyHeritage upgrades its consumer DNA test to whole-genome sequencing


There has been exciting news today with the announcement from MyHeritage that they will be transitioning to whole-genome sequencing (WGS) for the MyHeritage DNA test test. This is a direct-to-consumer DNA test which provides customers with DNA matches with relatives along with a biogeographical ancestry report. This landmark announcement heralds a new era of whole genome sequencing for genetic genealogy with the long-anticipated use of WGS for relative matching. 

Relative-matching for genetic genealogy has been available since late 2009 but in order to keep the costs down the companies have always used microarray technology. A number of different microarrays have been made available over the years covering between 600,000 and about a million base pairs. The new MyHeritage test WGS will sequence almost the entire human genome comprising over three billion base pairs. WGS is now being applied to most new MyHeritage DNA kits currently being processed at the lab, and to every new MyHeritage DNA kit sold moving forward. Incredibly, the test is being offered at the same price as the existing MyHeritage test (including sale prices). Existing customers who have tested on the older microarray technology will not have their kits upgraded but the low cost is not likely to be a barrier for most genetic genealogists.

Update. I have now been told by MyHeritage that “You can buy the kit now, but only those arriving at the lab in Jan 2026 will be warranted to have WGS." If you order a kit I would therefore recommend delaying its return to ensure you get the WGS test.

The sequencing is being done in the Gene by Gene laboratories using technology powered by Ultima Genomics. Gene by Gene are the parent company of FamilyTreeDNA who specialise in Y-chromosome and mitochondrial DNA testing.

Technical details

I asked MyHeritage about the coverage of the new MyHeritage and was advised that they will be using  low-coverage 2x sequencing. Coverage refers to the number of times a base is read by the sequencing machine. Clinical-grade sequencing, where the goal is to detect rare variants, is normally done at 30 x or higher. FamilyTreeDNA's BigY test has a read-depth of 70 x. However, for relative matching and biogeographical ancestry analysis the depth of the reads is less important than the quantity of data available, and a few missing or incorrect reads are not going to be a major problem.

The MyHeritage scientists validated their methods in a 2020 preprint by Petter et al "Relative matching using low coverage sequencing". In that study the sequencing was done at 1 x coverage. This meant that only one of the two bases at each position in the genome was sequenced. Nevertheless, the researchers were able to replicate the performance of microarrays for identifying relatives at the third cousin level or closer. The authors estimated that the cost of 1x sequencing was around $30 and commented at the time "We envision that in the short term 1x coverage can be a good sweet spot for consumer genomics, balancing quality and price." Clearly the costs of sequencing have come down in the interim to make 2x coverage the sweet spot for the roll out of WGS for genetic genealogy.

Compatibility

MyHeritage have made all the needed measures and adjustments to make sure that users' results (Ethnicity Estimate, Genetic Groups and DNA Matches) for those who will be sequenced with WGS will be compatible with all other DNA data files. They have made the required imputation and phasing changes required in order for this to happen. In other words, those who previously tested with array chips or have uploaded their data to MyHeritage from another service will still be matched to those who will be sequenced with WGS.

Uploads

MyHeritage stopped taking uploads in May 2025 for customers from some countries with the rollout to all countries completed by the beginning of August 2025, presumably in preparation for the transition to WGS. Customers who transferred their DNA to MyHeritage will continue to receive matches with new WGS testers. There are no plans to restore uploads.

Implications

I will be ordering the new MyHeritage WGS test. I have already tested direct at MyHeritage with a microarray test and I have also transferred my AncestryDNA results to MyHeritage. I will therefore have the ability to do a three-way comparison to test the performance. I am also fortunate that both of my parents have tested and are in the MyHeritage database.

Currently with my Ancestry transfer kit I have 12,279 matches but 38% of those matches don't match either of my parents.

With my direct MyHeritage DNA test I have 11,049 matches but 47% of those matches don't match either of my parents.

The non-matching with my parents is caused either by false positive or false negative matches. Spurious matches become a particular problem with smaller segment matches. I anticipate that with the WGS test the number of false matches will be reduced and the detection of smaller segments will be improved. We don't yet have details of how the matching process will work at MyHeritage and how many markers will be used for the comparison process. I hope that a white paper will be forthcoming. 

It is also anticipated that WGS will improve the biogeographical ancestry reports and I look forward to future developments.

I will update this blog post if further information become available.

Further reading

Further details of the new MyHeritage test are provided in the press release reproduced below. 

MyHeritage Upgrades Its Consumer DNA Tests

to Whole Genome Sequencing

MyHeritage becomes the first major DNA testing company to fully adopt Whole Genome Sequencing; the upgrade leverages technology by Ultima Genomics and processing at the Gene by Gene lab

TEL AVIV, Israel & LEHI, Utah & HOUSTON & FREMONT, California October 14 , 2025 — MyHeritage, the leading global platform for family history and DNA testing, announced today a landmark move to Whole Genome Sequencing for its at-home DNA test, MyHeritage DNA. Leveraging cutting-edge sequencing technology from Ultima Genomics and processing at the Gene by Gene lab, MyHeritage is the first major consumer DNA testing company to adopt Whole Genome Sequencing at a scale of more than one million tests per year. The enriched data will empower MyHeritage to deliver more accurate ethnicity analysis and DNA matching, and unlock opportunities for future innovation in consumer genomics and genetic genealogy.

Whole Genome Sequencing reads almost the entire human genetic code, covering around 3 billion base pairs (nucleotides). This is superior to the standard genotyping arrays used by most consumer DNA tests, including MyHeritage until recently, which read only about 700,000 base pairs. More data enables deeper insights across all types of genetic analysis. Whole Genome Sequencing is now being applied to most new MyHeritage DNA kits currently being processed at the lab, and to every new MyHeritage DNA kit sold moving forward. MyHeritage DNA kits already processed with the older genotyping array technology will not be reprocessed with Whole Genome Sequencing. Customers whose MyHeritage DNA kits are processed with Whole Genome Sequencing will be able to download their entire genome from MyHeritage at no cost, in CRAM format. They may also unlock additional insights by uploading their data to other trusted genetic service providers that support such uploads.

Due to its high technological potential, MyHeritage has been eying Whole Genome Sequencing for years. A pioneering study by the MyHeritage Science Team published in 2020 validated Whole Genome Sequencing for reliable relative matching at scale. Following that study, MyHeritage has been collaborating closely with Ultima Genomics since its emergence from stealth mode in mid-2022, and later jointly with Gene by Gene, to prepare the scientific and logistical foundation for upgrading the MyHeritage DNA processing pipeline to Whole Genome Sequencing using Ultima’s technology. The upgrade was completed successfully and creates new opportunities for MyHeritage to deliver deeper insights into ethnic origins, family connections, and genetic genealogy, without any price increase to consumers. Even before this upgrade, MyHeritage was consistently the most affordable DNA test on the market among the major DNA testing companies. The upgrade to Whole Genome Sequencing makes the MyHeritage offering even more compelling.

“This is a pivotal moment for genetic genealogy,” said Gilad Japhet, Founder and CEO of MyHeritage. “We are proud to take this pioneering step into Whole Genome Sequencing together with Ultima Genomics and with our longstanding partners at Gene by Gene. MyHeritage customers will enjoy the fruits of this technological upgrade for years to come, through increased accuracy, deeper insights, and exciting new products.”

“MyHeritage’s move to Whole Genome Sequencing marks a major milestone for consumer DNA testing,” said Dr. Gilad Almogy, Founder and CEO of Ultima Genomics. “It demonstrates the scalability and maturity of Ultima’s innovative technology and accelerates the immense value that Whole Genome Sequencing can bring to consumers. It has been a pleasure collaborating with MyHeritage over the past few years, and we are proud to work together with them and Gene by Gene to bring genetic genealogy to new heights for millions of consumers worldwide.”

“The transition to Whole Genome Sequencing represents the most ambitious project in our years-long partnership with MyHeritage,” said Dr. Lior Rauchberger, CEO of Gene by Gene. “We are proud to help set a new standard in consumer genomics and support the growth of what will soon become the world’s largest database of whole genomes. The rollout is centered at Gene by Gene’s state-of-the-art laboratory in Houston, Texas, which will house a large fleet of Ultima UG100™ sequencing instruments.”

Privacy Commitment

MyHeritage is committed to the privacy and security of its customers' data. All genetic data is encrypted and stored securely, and MyHeritage does not sell or license data to third parties. MyHeritage strictly prohibits the use of its platform by law enforcement. All genetic samples are automatically destroyed by the lab after processing, except those stored securely for customers who have enrolled in the MyHeritage DNA BioBank service. This provides customers with peace of mind not offered by most other major DNA testing companies.

About MyHeritage

MyHeritage is the leading global platform for family history. It enriches the lives of people worldwide by enabling them to uncover more about themselves and where they belong. With a suite of intuitive products, billions of historical records, AI-powered photo tools, and an affordable at-home DNA test, MyHeritage creates a meaningful discovery experience that is deeply rewarding. The MyHeritage platform is enjoyed by more than 62 million people around the world who treasure and celebrate their heritage. MyHeritage is committed to the privacy and security of its customer data and is available globally in 42 languages. www.myheritage.com

About Ultima Genomics

Ultima Genomics is unleashing the power of genomics at scale. The company's mission is to continuously drive the scale of genomic information to enable unprecedented advances in biology and improvements in human health. With humanity on the cusp of a biological revolution, there is a virtually endless need for more genomic information to address biology's complexity and dynamic change—and a further need to challenge conventional next-generation sequencing technologies. Ultima's revolutionary new sequencing architecture drives down the costs of sequencing to help overcome the tradeoffs that scientists and clinicians are forced to make between the breadth, depth and frequency with which they use genomic information. The new sequencing architecture was designed to scale far beyond conventional sequencing technologies, lower the cost of genomic information and catalyze the next phase of genomics in the 21st century. www.ultimagenomics.com

About Gene by Gene
Gene by Gene is a world leader in genetic testing services with over 20 years of experience. Its laboratory holds accreditation from multiple agencies, including CAP, CLIA, New York State Department of Health, California Department of Public Health, and AABB. With a cutting-edge laboratory and highly trained team of experts, Gene by Gene is committed to excellence in the field of genetic analysis. www.genebygene.com

Wednesday, 19 February 2020

30x whole genome sequencing from Nebula Genomics for $299


The cost of whole genome sequencing has been slowly coming down to an affordable level. Dante Laboratories had a special offer on their direct-to-consumer (DTC) whole genome service (WGS) in November 2018 when the test was priced at €169 (£150 or $199). They now offer a 30x whole genome test for €289 (reduced from €599). 30x refers to the coverage of the test  the number of reads at each position. 30x is now the standard coverage for medical purposes. Dante are based in Italy and initially focused on the European market but now sell their test globally. They had sequenced over 10,000 genomes by the end of 2019 and are currently processing 600 to 700 genomes per week.

DTC whole genome sequencing has also been offered for several years by Full Genomes Corporation though they no longer sell their tests in the European Union. FGC offer a range of tests at different coverage as well as a long-read whole genome test for $2900. A range of DTC WGS tests is also available at varying levels of coverage from the German company YSEQ. The British company SanoGenetics launched a DTC whole genome sequence test priced at £950 at the end of 2019 with an emphasis on data security. They hope to provide access to genetic counsellors, a doctor and good links to the UK's National Health Service but it is likely to be more than a year before they are in a position to deliver on this promise.

The market is now hotting up with the announcement that Nebula Genomics have launched a new 30x whole genome sequencing service for $299 (£231 or €277). The Nebula product will be available in 188 countries. Nebula are based in the US with offices in San Francisco and Boston. The sequencing is currently being done by BGI in Hong Kong. Nebula have partnered with FamilyTreeDNA to provide an analysis of the Y-chromosome and mitochondrial DNA sequences which are included with the service. The following information about the Y-DNA and mtDNA ancestry analysis is provided in Nebula's FAQs.
It is not clear how the transfer process will work but I presume that the sequences will be uploaded to FTDNA's BigY database and mitochondrial DNA database in order to receive genealogical matches. I suspect the promise of additional ancestry reporting will be in the form of an option to transfer a Family Finder-compatible file to FTDNA's autosomal DNA database.

On top of the cost of the testing it is necessary to pay a subscription for access to Nebula's reports which are updated on a weekly basis. You can choose a monthly, annual or lifetime subscription.


It doesn't seem to be possible to order a test without paying for a subscription so it appears that you would have to sign up for at least a single subscription for one month once you have received your results.

There is further information about Nebula Genomics in this article from OneZero.

Whole genome sequencing is not likely to be of interest for the average genealogist in the immediate future. To use a WGS test for genealogy we would need to have a WGS database so that we can be matched with our genetic cousins. No such database currently exists though I suspect it's only a matter of time before an enterprising company decides to take the initiative and set up a service. For now WGS is likely to be of most interest for genealogical purposes for the Y-chromosome data to see how the sequencing compares with other sequencing products such as FamilyTreeDNA's BigY test. WGS will also appeal to advanced genetic genealogists who like manipulating and playing with big data files. For example Louis Kessler, a genetic genealogist with a background in computer programming, has purchased a number of WGS tests and has had great fun analysing the files out of sheer scientific curiosity.

None of the major genetic genealogy companies currently offers a WGS test but I suspect it's only a matter of time.

Sunday, 18 November 2018

A 30x whole genome sequence from Dante Laboratories for €169 (£150 or $199)


Dante Laboratories have announced a special one-off promotion for Black Friday week. They are offering a next generation sequencing whole genome sequence (WGS) test at 30x coverage for just €169 (£150 or $199). The offer will end at midnight US Pacific time on Monday 26th November. Customers will also receive their raw data and a customised report without extra cost.

30x is the standard medical-grade coverage and this is the lowest price I've ever seen for 30x WGS.

The cost of the test includes the provision of a VCF file which can be downloaded from your account. There will be an option to download the BAM file from the cloud free of charge. Alternatively the FASTQ and BAM files can be sent on a 500 gigabyte hard disk for an additional fee of €59.00 ($69).

For further details visit the Dante Labs websites in the EU and the US:

https://us.dantelabs.com (US website)

The offer is also available through the Amazon market place in the US only.

There is a link to download a sample customised report on this page on the Dante Labs website.

See also the FAQs relating to this special offer.

Dante Labs introduced whole genome sequencing to the European market for €850 in May 2017. The price subsequently dropped to €449 (£400 or $499). There was a special offer in the US on Amazon Prime Day when the WGS test was on sale for $349.

What you can do with your whole genome data?
If you have your whole genome sequenced what can you do with the data? There are currently no companies that offer a relative-matching service using WGS. If you want to use a WGS test to search for relative matches you will need to extract the relevant SNPs to create a kit suitable for upload to GEDmatch. Thomas Krahn from YSEQ has provided some free code on Github to extract a 23andMe (v3) style file from a whole genome sequence BAM file (raw data file). Make sure you check out GEDmatch's revised terms of service first.

If you are interesting in discovering new SNPs from your WGS Y-chromosome data there are various tools that allow you to work with BAM files. YFull is already able to process BAM files from Dante Labs. Full Genomes Corporation offers a whole genome sequencing interpretation service for $75 and an advanced analysis for $250. The R1b Data Warehouse submission process has already been reconfigured to accept VCF files from Dante Labs and they can process WGS BAMs submitted to http://haplogroup-r.org/submit.html, However, at the moment no one appears to be working with these files.

You can also upload your whole genome sequence to the literature retrieval service Promethease to get a range of health and trait reports.

Dante Labs WGS data can also be uploaded to Sequencing.com where you can share your data for research and purchase reports from their app store.

There are also many other sites where you can share or upload your raw data. See the list of raw DNA data  tools in the ISOGG Wiki.

Other whole genome sequencing providers
Direct-to-the-consumer whole genome sequencing is available from Thomas Krahn's company YSEQ at 15x, 30x and 50x. The 15x test currently costs $740. There is an additional fee of $600 for a 30x test and a $100 fee for Sanger sequencing confirmation if required. The YSEQ test includes genealogically relevant reports for the Y-chromosome and mitochondrial DNA. YSEQ ships worldwide.

Full Genomes Corporation also provides a range of direct-to-the-consumer whole genome sequencing services as well as Y-chromosome sequencing options but sadly they stopped selling to European Union countries in May as a result of the EU's new General Data Protection Regulation (GDPR).

Nebula Genomics announced this week that they were offering low coverage 0.4x whole genome sequencing for $99. They are testing a model using cryptography and blockchain technology which will allow consumers to sell their health data to researchers and choose which research they would like to participate in. If you want a medical grade 30x sequence you would have to hope that a company or research organisation would be sufficiently interested in your data to pay for the sequencing.

There are various American companies that sell whole genome sequencing such as Veritas Genetics and Sure Genomics but they don't sell their tests outside the US and you also need to order through a doctor.

There were rumours circulating on Twitter last week that Illumina would be announcing a $100 genome in the next few months. We might therefore see other companies trying to jump on the WGS bandwagon in the next few months or additional offers in the run-up to Christmas. However, I understand that Dante are using BGI sequencing technology and not Illumina. It will be interesting to see how the market plays out.

See also this discussion A 30x full-genome sequence for $199 (€169 £150) on the Wikitree G2G forum.

Further reading
Dante Labs and the $1000 genome by Rebekah Canada

Acknowledgements
Thanks to Thomas Krahn for the information about the BGI sequencing technology used by Dante Labs. Thanks to James Kane for the information about the R1b Data Warehouse and Sequencing.com.

Monday, 8 May 2017

Dante Labs offers whole genome sequencing to European market for €850


A new biotech start-up by the name of Dante Labs is joining a growing number of companies who are offering whole genome sequencing at ever more competitive prices. Dante is a global company based in the US but with an office in Italy. They are catering specifically for the European market and are offering a high-coverage (30x) whole genome sequencing test with interpretation for €850 (about £718 or US $929 at current exchange rates). Customers can have access to their raw data on request.

It is not clear what is provided with the Dante Laboratories interpretation service. There are no sample reports available on the website and no details are provided of the scientific personnel who will be doing the analysis.

Many of the companies selling whole genome sequencing tests (eg, Veritas Genetics and Sure Genomics) only sell their test in the US and require the customer to order through a doctor whereas the test from Dante is available direct to the consumer. There are two companies  Full Genomes Corporation and YSEQ  which sell whole genome testing worldwide for the genetic genealogy market. Both companies specialise in the interpretation of Y-chromosome results and do not provide medical reports.

For details of other companies offering whole genome sequencing see the list of DNA testing companies in the ISOGG Wiki.

Below is the press release I received from Dante Labs.
Dante Labs offers EUR 850 Whole Genome Sequencing 
THE INTERNATIONAL BIOTECH COMPANY OFFERS FOR THE FIRST TIME IN THE WORLD WHOLE GENOME SEQUENCING AND INTERPRETATION AT ONLY EUR 850, MARKING A HISTORIC STEP IN THE DEMOCRATIZATION OF GENETICS. 
New York, NY April 18, 2017 – Dante Labs today announced that they are offering 
Whole Genome Sequencing (WGS) and interpretation at only EUR 850 (ca. $900). While American individuals were able to access whole genome sequencing at $1,000, this innovation marks the first time Europeans can access whole genome sequencing below EUR 1,000. 
The sequencing includes bioinformatics analysis and interpretation, which are crucial to leverage genetic information and apply it into decisions about disease monitoring, prevention, nutrition, exercise, health monitoring and more. 
The Whole Genome Sequencing is run at 30X, which makes the achievement even more impressive. 
Dante Labs has chosen a selected list of partners to develop DNA sequencing services “accessible to everyone”. “By leveraging only the world’s best genetic technologies, we ensure that our customers have access to the best in the world of genetics,” says Dante Labs co-founder Andrea Riposati. “Genetics has seen tremendous developments in the last decade. Just think that the first whole genome sequencing cost north of $2.4 billion. For too long, only few people could benefit from the impact of genetic research. It’s healthcare, so I say it is important everyone benefits from it. The key to empower everyone with high-quality, advanced genetics it is to decrease the price. By integrating in the value chain, removing unnecessary intermediaries, developing synergies with strategic partners and leveraging economies of scale, we are able to offer the whole genome sequencing at only EUR 850.” 
Dante Labs offers a suite of direct-to-consumer DNA tests, including BRCA1 and BRAC2 sequencing, Whole Exome Sequencing and Common Hereditary Cancer. 
About Dante Labs
Founded in 2016, Dante Labs is a global pioneer in developing direct-to-consumer genetic services. The company mission is to empower people with knowledge and insights about their own genetic information so that they can live healthy, long and happy lives. Dante Labs has offices in the US and Europe.