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Genomics – A programmer’s guide

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Re: Genomics – A programmer’s guide

#51

The hardest part of genomics for me has honestly been figuring out which open source poorly maintained tool I should use for a particular problem. and which options should be run and how the data need to be preprocessed before hand. I mean has anyone ever actually read the documentation of the GATK? It is famously dreadful. And that's professionally maintained. Honestly a nice addition here would be a "so you want to…

have you ever looked at the test suites for Picard? All regression tests and the library is OO hell lols I was taught a decade ago that rolling your own in genomics isn't as bad of a decision as it seems.

This is sadly very true, especially if you have any real software training.

Re: Genomics – A programmer’s guide

#52

The hardest part of genomics for me has honestly been figuring out which open source poorly maintained tool I should use for a particular problem. and which options should be run and how the data need to be preprocessed before hand. I mean has anyone ever actually read the documentation of the GATK? It is famously dreadful. And that's professionally maintained. Honestly a nice addition here would be a "so you want to…

> I mean has anyone ever actually read the documentation of the GATK? It is famously dreadful.

Reference for "famously"?

Re: Genomics – A programmer’s guide

#53
post #11

If anyone is interested in playing with a full 23andMe raw data file (VCF), I have mine on GitHub: https://github.com/blopker/DNA PRs welcome! If you're also interested in working on this stuff, shoot me an email ;) blopker@23andme.com

How far are companies like 23andMe from entire genome sequencing? That's kind of what I'm waiting for. Can you still get valuable data from genotyping?

Veritas Genetics offers full-genome sequencing for 1000 USD. I purchased their kit for 200 in a limited-time offer. Unfortunately when I sent it in early February, there is a backlog which is delaying my results until late this summer.
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