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Raw Data technical characteristics

The Raw Data is a file that contains all the genotyping array genetic markers measured in the laboratory. However, only part of markers is individually analysed and validated for being interpreted on the tellmeGen platform. The Raw Data file can be conveniently downloaded to your PC and uploaded to other genetic information interpretation platforms. It also allows you to easily consult the result of markers either by their RS identification number or by their position in the genome. The Raw Data must be used for informational purposes and not for medical and diagnostic use.
The Raw Data will be available in your account when you access your “registered kits” and click on the “Actions” button. When you select “Download raw data” it is generated a compressed (.zip) file that contains your Raw Data. The unzipped file can be opened with Excel, TextPad, WordPad, among other software, and contains the following fields:

  • rsid: is the number that defines a human variation in the public genetic database dbSNP. The variants analysed in tellmeGen are Single Nucleotide Polymorphisms (SNPs) and small insertions and deletions.
  • chromosome: it indicates the number of the chromosome where the genetic variant is placed. There are 22 pairs of autosomal chromosomes which are indicated with a number and the sexual chromosomes that are named as X and Y. There are also markers in mitochondrial DNA that appears listed as “MT”.
  • position: is the position of the genetic marker according to the human genetic assembly GRCh37 database.
  • genotype: this column contains genotyping results for the genetic markers. The genotypes are pair combinations of the four nucleotides A, T, G and C.The insertions and deletions are represented with the I and D letters, respectively. When a genotype cannot be properly assessed and there is no data appears as ‘–‘. The genotypes are Plus oriented according to the human genome assembly GRCh37 (build 37) from Genome Reference Consortium.