What are raw data files and what do they contain?

Updated on

Raw data files contain your uninterpreted genetic data, as produced by the laboratory. They belong to you and you can download them from your account (for Ultra, subject to the tellmeGen+ terms). 

Starter and Advanced. A .csv file containing the markers on the genotyping chip and your genotype at each one: 

  • rsID: the variant identifier, usually its ‘rs’ code in the public dbSNP database; some markers on the chip use proprietary identifiers. 
  • Chromosome: 1 to 22, X, Y or MT (mitochondrial). 
  • Position: based on the GRCh37 reference genome. 
  • Genotype: the two letters you have at that position (A, T, G, C), or I and D for insertions and deletions. 

This file has not undergone the quality checks we apply before interpreting the data. 

Ultra. You can download your data in four formats (CRAM, CSV, FASTQ and VCF), organised into two sections of your account: 

  • Downloads: MyVariants and MyVariants Ultra, in .csv format, designed to be viewed without bioinformatics expertise. 
  • Technical downloads: CRAM, FASTQ and VCF, the standard bioinformatics formats, intended for advanced users. 

These data are for information only and must not be used to make a diagnosis.