Technology, laboratory and regulation

tellmeGen™

machine

Laboratory

Your sample is analyzed entirely within the European Economic Area. Our reference laboratories are Eurofins Genomics (Denmark), GenePlanet (Slovenia), and MGI (Poland), prepared to process the large volume of samples we analyze each month with standardized processes, both with microarrays (DNA chip) and with whole-genome sequencing (WGS). The lab extracts the DNA from your saliva sample and generates the raw data; the analysis and interpretation are done by our own team of geneticists, bioinformaticians, and doctors. This is how we ensure quality at every step:

Analysis in Europe: the entire laboratory process is carried out within the European Economic Area, under European data protection regulations.

Certified quality: quality management systems certified or accredited in accordance with the standards of your activity, such as ISO/IEC 17025.

Large-scale processes: standardized workflows to reliably analyze a high volume of samples.

Quality raw data: the lab extracts the DNA and generates the data, which undergoes quality control before being passed to analysis.

Own interpretation: our team of geneticists, bioinformaticians and doctors analyzes and interprets your data.

Full traceability: each report is linked to the version of the software and the data with which it was generated.

Technology: Illumina microarrays (Starter and Advanced)

In Starter and Advanced we use Illumina technology genotyping microarrays, one of the world leaders in genetic analysis, which measure with high precision 750,000 genetic markers (SNPs) distributed throughout the genome. Based on this, our scientific team incorporates more than 10,000 proprietary markers, selected to enhance health reports, personal traits, and ancestry. Furthermore, we duplicate the probes for key markers to check the reproducibility of each analysis. The result is detailed and reliable genetic information, which helps you to know yourself better and make informed decisions about your well-being, alongside your doctor when it comes to your health.
Applications in research and in clinical practice

Microarray technology is an established tool in large genetic research studies and in clinical practice. Our marker selection is designed to obtain robust results in health, personal traits, and ancestry, and to optimize variant imputation.

Global content

The chip is based on a panel of markers designed to cover the entire genome in populations worldwide, with variants of clinical and research interest and quality control markers. Thus, your results are relevant whatever your origin.

13 million variants by imputation

We combine our team's knowledge with significant computational power. Through imputation, a statistical method that estimates variants the chip does not directly measure from those it does measure, we expand the analysis from 750,000 markers to 13 million variants, with particular reliability in frequent variants (frequency above 1%). This allows us to study associations far beyond the chip.

Robust, high-quality essay

The double measurement of key markers and quality control markers included in the chip ensure consistent and reproducible results in each analysis.

Technology: whole-genome sequencing (Ultra WGS 30x)

With tellmeGen Ultra WGS (30x) we don't limit ourselves to a selection of markers: we sequence your entire genome, practically all of its approximately 3 billion base pairs. While genotyping techniques measure hundreds of thousands of markers, sequencing directly reads your DNA, allowing you to also study rare variants that a chip cannot measure. Each position is read about 30 times on average (30x coverage), which gives solidity to each reading. To identify single-letter changes (SNVs) and small insertions and deletions, we use DeepVariant, an artificial intelligence model developed by Google and widely used in genomics.
  1. Full reading of variants and structural alterations

    Whole genome sequencing detects a wide range of genomic changes: single-letter variants, rare variants, copy number variants (CNVs), large insertions and deletions, tandem repeats, and rearrangements. Today our reports interpret single-letter variants and small insertions and deletions, and we plan to incorporate the interpretation of the rest in future updates. Additionally, you receive your genomic data files (FASTQ, CRAM, and VCF).

  2. Updated and constant results

    tellmeGen Ultra WGS (30x) includes the first three months of tellmeGen+ for free, our annual subscription that automatically incorporates new updates and features into your results, without repeating the test. Your genome is sequenced once and its analysis continues to grow with you.

  3. Software and regulation: a systematic and verifiable job

    tellmeGen is the brand of GENELINK, S.L., an authorized health center in Spain (No. 11540), with over ten years of experience in genetics. Our software is developed in accordance with the IEC 62304 standard in its most demanding safety class and uses the same reference genome (GRCh37) in all products. Our quality management system follows the ISO 13485 standard and is in the process of certification with BSI, notified body 2797, which also assesses our software as a Class C product according to Regulation (EU) 2017/746. We expect to obtain CE-IVD marking in March 2027 (in-house declaration).

  4. Safe and reliable results

    Quality over speed: if a sample does not reach 20x coverage, the result is not published; it is retained and reviewed by our team. And if a position has not been read with sufficient quality, it is marked as unassessable, never as "no variant." Imagine reading a book where every letter is reviewed about 30 times and where blurry pages are flagged instead of being considered good: that's how we work. Our reports are predictive and informative: they help you get to know yourself and talk to your doctor, but they are not a diagnosis.

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Important information and limitations

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