Analysis of the raw sequence data requires bioinformatics expertise and software.
For annotation and analysis of sequence variants in the VCF file there are several commercial and noncommercial tools available. Commonly used and freely available command line tools include:
There are also several commercial and noncommercial web browser-based or stand-alone software for variant annotation and analysis. For sequence read analysis, GATK is one of the most commonly used toolkits https://software.broadinstitute.org/gatk/.
To visualize the content of VCF or BAM files in genomic context the Integrative Genome Browser (IGV) can be used, both as a stand-alone application and a web-browser interface.
Please be advised that a specimen collection kit must be requested by a medical professional.
If you are a patient or family member of a patient, please contact your provider to place a kit order on your behalf.