Title: My partner was diagnosed with a rare condition&#x2F;disease with unclear cause&#x2F;pathology.<p>I feel like it would be impossible for a doctor to stay abreast of all of the possible links&#x2F;data unless they focused very narrowly on a patient.<p>I&#x27;d like to try and fill that gap - look at the data and relay any potential links&#x2F;causes to the providers.<p>We have the full genome in CRAM, CRAI, FASTQ, VCF, and TBI data - is there a way that me, a medical layman but well informed person could leverage this data to mine for possible matching genetic variants?<p>e.g. I have started finding genes associated with my partner&#x27;s condition in the NCBI website and the ClinVar Miner (https:&#x2F;&#x2F;clinvarminer.genetics.utah.edu&#x2F;variants-by-condition)<p>Is it sufficient to identify variants by searching for the SNP string (e.g. &quot;rsXXXXXX&quot;) in the VCF file?<p>Are there &quot;hacker&#x27;s guide to genomic analysis&quot; resources out there?
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