What are MyVariants and MyVariants Ultra files, and what are they used for?

The MyVariants and MyVariants Ultra files are CSV files generated from Whole Genome Sequencing (WGS) data, which analyses 100% of your DNA. These files have been created to make it easier to access part of the user’s genetic information in a simpler, structured format, similar to the raw data files used in genotyping array analyses.

Both files contain genetic information organised in columns, including variant identifiers (rsID), genomic positions (GRCh37) and the user’s genotypes. Their purpose is to offer a more accessible way to consult this information, without needing to work directly with more complex technical files such as FASTQ, CRAM or VCF.

The MyVariants file is mainly intended for users of the Ultra DNA test who wish to use their genetic data on other platforms compatible with raw data-type files. Its structure makes it easier for certain external tools to recognise and process the genetic information in a similar way to how they would process data from a genotyping array.

The MyVariants Ultra file, on the other hand, contains a broader version of the information. In addition to the data included in MyVariants, it also incorporates the genotypes of those variants in which the user does not present the reference/reference genotype. This makes it possible to explore in greater detail the positions where the user’s genome differs from the reference genome.

Characteristics of the MyVariants file:

• Simple format: Delivered in CSV format, compatible with programs such as Excel, Google Sheets or basic bioinformatics tools.

• Structure similar to array raw data: Presents genetic information in a familiar format for users who have already worked with genotyping files.

• Use on external platforms: Designed to facilitate data uploads to third-party platforms that accept structured genetic files.

• Accessibility: Allows certain genotypes to be consulted more easily than in complex technical formats.

Characteristics of the MyVariants Ultra file:

• Higher level of detail: Includes a broader selection of variants from the WGS analysis.

• Non-reference/reference variants: Contains the genotypes of those variants in which the user presents a difference from the reference genome.

• Advanced but accessible exploration: Intended for users who wish to review their genetic information in greater depth, without needing to handle VCF, CRAM or FASTQ files directly.

• CSV format: Can be opened with common spreadsheet tools, making it easier to search, filter and review specific variants.

Limitations:

• Not equivalent to an interpreted report: The MyVariants and MyVariants Ultra files contain genetic data, but they do not provide medical, clinical or diagnostic interpretation by themselves.

• Does not replace the VCF: Although these files make it easier to consult variants, the VCF file remains the most complete and standardised technical format for the bioinformatics analysis of genomic variants.

• Variable compatibility: Some external platforms may not accept all formats or may require specific adaptations of the file.

• Requires caution in interpretation: The presence of a particular genotype does not necessarily imply a medical condition, predisposition or specific trait. Interpretation should always be carried out in the appropriate context and, in the case of health-related information, by qualified professionals.