Raw Data in Starter and Advanced kits
Raw Data files are files that contain unprocessed genetic information, that is, the raw data generated directly by a laboratory from the saliva sample. These files contain all the genetic markers present in the genotyping array used to study your DNA, including information about your genotype — the nucleotides you have and their location in the genome.
Although these files have not undergone quality control to determine which variants are suitable for analysis, tellmeGen users can access their own Raw Data file, which is available for download in .csv format from their private account. This file contains the genetic markers and the corresponding genotype for each one.
In addition, if you have Raw Data files from other specialised companies such as 23andMe, Ancestry or MyHeritage, you can upload them to tellmeGen to access the analyses we offer.
The Raw Data file includes details such as:
- rsid: The number that defines a human variation in the public dbSNP database.
- Chromosome: The number of the chromosome where the genetic variant is located, including sex chromosomes (X, Y) and mitochondrial chromosomes (MT).
- Position: The location of the genetic marker according to the GRCh37 database.
- Genotype: The genotype results of the genetic markers, represented by combinations of nucleotides (A, T, G, C) or by the letters I and D for insertions and deletions, respectively.
Raw Data is downloaded in .zip format from your tellmeGen account, in the section Settings → Kits → Download Raw Data.
It is important to highlight that these data are informative and should not be used for medical diagnoses. In addition, you can upload these files to other genetic interpretation platforms.
Raw Data in the Ultra kit
The Ultra kit (WGS 30x) offers a much deeper view by sequencing 100% of your genome. Therefore, in addition to basic data, you have access to advanced bioinformatics formats.
Available technical formats:
- FASTQ: These are the files that contain the “raw” DNA reads generated directly by the sequencing machine. This is the most basic and largest level of data.
- CRAM: A highly compressed format that contains your DNA reads already aligned against a reference genome. It is the efficiency standard for working with WGS data.
- VCF (Variant Call Format): The bioinformatics standard that stores the variations found in your genome (SNPs, insertions, deletions) when compared with the reference genome.
- MyVariants and MyVariants Ultra (CSV): Files designed to make it easier to read your genetic variants, optimised to be opened in Excel or Google Sheets, allowing simple handling of your data.
Download policy for Ultra users
As a user of the Ultra kit, you have a free download quota to manage your raw data:
- Free limit: You can download your files (FASTQ, CRAM, VCF, CSV) up to a total of 3 times per year at no additional cost.
- Additional cost: From the fourth download onwards, each download will cost €4.99/USD or the equivalent in your local currency.