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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?"},"title":{"fullyHighlighted":false,"matchLevel":"full","matchedWords":["geonet"],"value":"Ask HN: How to be my own genetic disease researcher for my partner?"}},"_tags":["story","author_thetwentyone","story_29468831","ask_hn"],"author":"thetwentyone","children":[29469009,29469010,29469116,29469133,29469205,29469211,29469259,29469306,29469313,29469389,29469442,29469531,29469697,29469724,29469810,29470171,29470236,29470361,29470547,29470686,29470723,29470808,29470865,29470934,29471486,29471937,29472105,29472247,29472474,29472874,29473087,29473242,29474206,29476256,29477599,29479038,29481007,29489173,29494118,29494132],"created_at":"2021-12-07T03:33:05Z","created_at_i":1638847985,"num_comments":83,"objectID":"29468831","points":262,"story_id":29468831,"story_text":"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?","title":"Ask HN: How to be my own genetic disease researcher for my partner?","updated_at":"2026-05-14T22:46:40Z"},{"_highlightResult":{"author":{"matchLevel":"none","matchedWords":[],"value":"ReginaDeiPirati"},"title":{"fullyHighlighted":false,"matchLevel":"full","matchedWords":["geonet"],"value":"Introduction to Genetic Algorithms"},"url":{"fullyHighlighted":false,"matchLevel":"full","matchedWords":["geonet"],"value":"https://blog.floydhub.com/introduction-to-genetic-algorithms/"}},"_tags":["story","author_ReginaDeiPirati","story_20118292"],"author":"ReginaDeiPirati","children":[20119996,20120126,20120183,20120515,20120540,20120611,20121047,20122306,20122621,20122754,20122988],"created_at":"2019-06-06T19:42:11Z","created_at_i":1559850131,"num_comments":65,"objectID":"20118292","points":261,"story_id":20118292,"title":"Introduction to Genetic Algorithms","updated_at":"2024-09-20T04:21:44Z","url":"https://blog.floydhub.com/introduction-to-genetic-algorithms/"},{"_highlightResult":{"author":{"matchLevel":"none","matchedWords":[],"value":"SanjayMehta"},"title":{"fullyHighlighted":false,"matchLevel":"full","matchedWords":["geonet"],"value":"Indoor tanning makes youthful skin much older on a genetic level"},"url":{"fullyHighlighted":false,"matchLevel":"full","matchedWords":["geonet"],"value":"https://www.ucsf.edu/news/2025/12/431206/indoor-tanning-makes-youthful-skin-much-older-genetic-level"}},"_tags":["story","author_SanjayMehta","story_46342447"],"author":"SanjayMehta","children":[46342927,46342987,46343099,46343143,46343229,46343594,46343773,46344108,46344200,46344242,46344612,46345090,46345184,46345196,46345249,46345748,46345983,46346139,46346304,46346347,46346733,46347059,46347086,46347229,46347327,46349250,46349511,46350363,46350737,46352523],"created_at":"2025-12-21T05:21:42Z","created_at_i":1766294502,"num_comments":197,"objectID":"46342447","points":258,"story_id":46342447,"title":"Indoor tanning makes youthful skin much older on a genetic level","updated_at":"2026-03-23T19:59:09Z","url":"https://www.ucsf.edu/news/2025/12/431206/indoor-tanning-makes-youthful-skin-much-older-genetic-level"},{"_highlightResult":{"author":{"matchLevel":"none","matchedWords":[],"value":"JeanKage"},"title":{"fullyHighlighted":false,"matchLevel":"full","matchedWords":["geonet"],"value":"FDA approves first gene therapy for treatment of genetic hearing loss"},"url":{"fullyHighlighted":false,"matchLevel":"full","matchedWords":["geonet"],"value":"https://www.fda.gov/news-events/press-announcements/fda-approves-first-ever-gene-therapy-treatment-genetic-hearing-loss-under-national-priority-voucher"}},"_tags":["story","author_JeanKage","story_47919733"],"author":"JeanKage","children":[47921143,47921146,47921170,47921212,47921243,47921761,47922150,47922306,47922542,47922604,47923454,47924944,47925198,47925498,47926774,47928323,47928819],"created_at":"2026-04-27T10:15:17Z","created_at_i":1777284917,"num_comments":103,"objectID":"47919733","points":253,"story_id":47919733,"title":"FDA approves first gene therapy for treatment of genetic hearing loss","updated_at":"2026-07-28T19:22:25Z","url":"https://www.fda.gov/news-events/press-announcements/fda-approves-first-ever-gene-therapy-treatment-genetic-hearing-loss-under-national-priority-voucher"}],"hitsPerPage":50,"nbHits":7727,"nbPages":20,"page":0,"params":"query=GeoNet&tags=story&hitsPerPage=50&advancedSyntax=true&analyticsTags=backend","processingTimeMS":6,"processingTimingsMS":{"_request":{"roundTrip":23},"fetch":{"query":2,"scanning":2,"total":5},"total":6},"query":"GeoNet","serverTimeMS":7}