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The variants in ClinVar will have genomic coordinates associated with them, each given with respect to a particular reference genome, e.g.

GRCh38 - chr2:41785474-41785474

or something like that.

You will need to align your FASTQ to one of these reference genomes using a short-read aligner such as BWA-MEM (assuming your genome was sequenced using something like Illumina NGS) to produce a BAM (binary alignment map) file, and then from there use a variant calling tool such as GATK's HaplotypeCaller or Google's DeepVariant to produce a VCF (variant call format) file, which will contain the mutations in your genome. Then you can see if any of the mutations found in your genome match those in ClinVar.

As humans are diploid, you will also need to be cognizant of the zygosity of each mutation, i.e., whether you have a particular mutation on just one of your two chromosomal homologs (heterozygote) or both (homozygous mutant), as this may affect whether or not the mutation is of concern, the variant caller will attempt to determine this for you and report it in the VCF file.




And even if you do all of this, it likely won't give you any actionable information.


but it will give you some sleepless nights!




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