My partner was diagnosed with a rare condition/disease with unclear cause/pathology.
I feel like it would be impossible for a doctor to stay abreast of all of the possible links/data unless they focused very narrowly on a patient.
I'd like to try and fill that gap - look at the data and relay any potential links/causes to the providers.
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?
e.g. I have started finding genes associated with my partner's condition in the NCBI website and the ClinVar Miner (https://clinvarminer.genetics.utah.edu/variants-by-condition)
Is it sufficient to identify variants by searching for the SNP string (e.g. "rsXXXXXX") in the VCF file?
Are there "hacker's guide to genomic analysis" resources out there?
I feel like it would be impossible for a doctor to stay abreast of all of the possible links/data unless they focused very narrowly on a patient.
I'd like to try and fill that gap - look at the data and relay any potential links/causes to the providers.
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?
e.g. I have started finding genes associated with my partner's condition in the NCBI website and the ClinVar Miner (https://clinvarminer.genetics.utah.edu/variants-by-condition)
Is it sufficient to identify variants by searching for the SNP string (e.g. "rsXXXXXX") in the VCF file?
Are there "hacker's guide to genomic analysis" resources out there?