In the downloads section of the ULTRA test, you can find different types of files generated from your Whole Genome Sequencing data, WGS. These files are organised into two main sections: “Downloads” and “Technical downloads”.
Firstly, the “Downloads” section includes two CSV files designed to offer users a simpler and more accessible experience. These files have a structure similar to the raw data generated by genotyping platforms and are intended to allow non-expert users to explore their genetic data more comfortably. In addition, they have been prepared to facilitate their possible use on third-party genetic analysis platforms.
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TMG MyVariants: is a file whose format and content have been adapted to maximise compatibility with external genetic analysis platforms. Its aim is to provide the user with a simple, structured file similar to genotyping raw data, thereby making it easier to consult part of the genetic information obtained through WGS.
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TMG MyVariants Ultra: contains all the information included in TMG MyVariants and also incorporates those variants in which your genotype is not reference/reference. This means that it allows you to consult, in a broader way, the positions where your DNA shows a difference from the reference genome. This file is designed so that users can explore their genetic variability more easily, without needing to work directly with more complex bioinformatics files.
Secondly, the “Technical downloads” section provides users with files in formats commonly used in genomic analysis workflows. These files are aimed at advanced users, bioinformaticians, researchers or professionals who wish to perform more specific technical analyses.
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FASTQ file: is the raw output file from the sequencing machine. It contains unprocessed DNA reads, together with quality scores indicating the reliability of each read. It is one of the most complete formats, as it preserves the initial information generated during sequencing. However, it is also a large file and its use requires bioinformatics knowledge, as well as specific tools for processing.
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VCF file (Variant Call Format): is the result of the bioinformatics processing of sequencing data after alignment and comparison with a reference genome (GRCh37). It contains information about the variants identified in the user’s DNA, that is, the positions where a difference from the reference genome has been detected. This format is widely used in genetics and bioinformatics for the analysis, filtering and interpretation of genomic variants.
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CRAM file: is a compressed binary format used to store genomic sequencing data aligned against a reference genome (GRCh37). It contains information on the DNA reads obtained after sequencing, indicating the position in the reference genome to which they align, together with quality data and other technical metadata. It requires specific bioinformatics tools and, in many cases, the reference genome used during alignment in order to be interpreted correctly. Like FASTQ, it is a technical and large file, so it is mainly intended for advanced users, bioinformaticians or researchers.