Anne Westcott

Head of Science

We have a new chip!

We have upgraded our SNP genotyping platform!

What is it?

A genotyping platform (known as chip or array) scans hundreds of thousands of positions throughout your genome (your DNA code). These positions, known as Single Nucleotide Polymorphisms (SNPs; pronounced ‘snips’), are highly variable across populations and individuals, and allow us to explore with high resolution your unique genetic profile. Using state-of-the-art statistical tools, these profiles are being currently used at Living DNA to estimate the percentages of your total DNA relating to different human groups across the globe, your location on the branches of the trees for your mitochondrial ("Motherline") and Y-Chromosome ("Fatherline"; tested if you are a male) DNA, the bits of DNA you only inherit from your mother and your father respectively. Additionally, as you may know we are developing a series of new features for our product, including "Family Networks", which is currently in the Beta version and will allow you to explore your connections with other users across our customer database.

We are excited to announce that we have developed an improved SNP genotyping platform that has been tailored to match the technical requirements of the different statistical methodologies we use to analyse your data. Sirius, the new chip, has been designed using the Axiom® technology from Affymetrix / Thermo Scientific, which allows a great flexibility to match every feature of the chip to our methodologies/products. In other words, Sirius will allow us to make a better use of your genetic information and to use our methods more efficiently. New features include a higher overlap between the SNPs we test for our customers and chips used by other ancestry companies and a better SNP density and distribution across the genome as we explain bellow:

Increased precision for "family" ancestry estimation

Our Family Ancestry test measures the amount of genetic ancestry you share with different populations throughout the world by comparing your high-res genetic profile against the profiles of different reference panels of individuals with known ancestry profiles. The main challenge we face when doing such comparison is the fact that the profiles of these reference panel individuals have been usually obtained using different SNP genotyping platforms, and in order to make them comparable with your own profile we need to use statistical approaches to estimate SNPs that are common to all the platforms extrapolating information from these and other populations in a process known as imputation.

Sirius provides an increased overlap of the SNPs typed in your profile with those in the different reference panels, reducing the amount of imputed markers we use in our analysis, which translates into an increase in precision and resolution of our ancestry estimations.

Increased compatibility with other DTC allowing more precise Family Matching

As mentioned above, a better overlap with research genotyping arrays means an increase in the precision of our methodologies. Additionally, a better overlap with other companys’ chips will make possible to look for your relatives not only within the customers that have been tested with our chip, but also for those who have been tested in other platforms and now desire to transfer their genetic data to our system.

Increased resolution for Motherline and Fatherline products.

We are currently working on upgrading our Y-chromosome to comply with the latest ISOGG tree. Same goes for mtDNA. All this work is leading us to a better estimation of your place in the Motherline and Fatherline trees.

Getting ready for the new products

Yes, we are getting ready for a bunch of new products which we will be releasing soon.

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