Welcome to the Personal and Professional page for Don Windrem.

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Hi HN folks,

I was browsing Aaron's blog [http://www.aaronsw.com/weblog/rawnerve] when I noticed the footer links out to http://theinfo.org/ (last updated March 2008). However, none of the links are still alive, and I couldn't find any pages that were backed up on Archive.org.

I figured this would be the best place to ask - does anyone have an archive of these pages?


Comments URL: https://news.ycombinator.com/item?id=29469671

Points: 65

# Comments: 3

Go to article - Ask HN: Does anyone have a backup of Aaron Swartz' site: theinfo.org?

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?


Comments URL: https://news.ycombinator.com/item?id=29468831

Points: 112

# Comments: 35

Go to article - Ask HN: How to be my own genetic disease researcher for my partner?