4 ms·

I've been wary about submitting my DNA to a company so this is very intriguing. Is there enough data and/or a community and open software to support things lik

I've been wary about submitting my DNA to a company so this is very intriguing. Is there enough data and/or a community and open software to support things like ancestry and disease profiles locally?

amelius 5y ago
Good question. I'm always afraid most of the useful medical data will be kept secret by these giant corporations, but let's hope this is not already the case.
searine 5y ago
Most of bioinformatics/computational biology is open source and so are most of the data sets. The companies that do this definitely have a 'special sauce' for ancestry, but most all of the disease annotations are public (see dbSNP). As for the paranoia about DNA companies, you are an anonymous drop in the ocean of sequenced DNA. There are laws against using it to inform insurance coverage. Sequencing yourself at one these companies and opting in for use in research is actually really important to collecting the sample sizes necessary to discover new causative variants for disease.
teachingassist 5y ago
It's tricky to organise, but in theory, yes, you can interpret your own results. Ancestry/23andme-type medical results are (in my opinion) almost entirely a nice write-up and display of public databases of research on SNPs, e.g. https://www.ncbi.nlm.nih.gov/snp/docs/entrez_help/ https://www.ncbi.nlm.nih.gov/snp/docs/entrez_help/, https://www.snpedia.com/ https://www.snpedia.com/ You could (for example) submit the data you get to Promethease which will do the processing for you. Promethease is now owned by MyHeritage, so I'm not sure how their terms are looking - I'd be a little cautious about using that.
caymanjim 5y ago
I've been curious about what my DNA says, and went so far as to buy a 23andme kit years ago. I never sent it in, because I don't like the idea of some company retaining that kind of deeply personal data about me. It's useless to resist, though; my sister and some cousins submitted theirs, and that's enough to destroy any real sense of anonymity I might have. I don't have any particular concern; it's just one of the myriad ways that privacy no longer exists.
- weaksauce 5y ago
  > I don't have any particular concern we don't have even the slightest idea of where it could go right now. look 30 years ago and DNA wasn't a thing that people were worried about and now it's catching sloppy criminals. the technology opens up new, unexpected opportunities
  - adenadel 5y ago
    I get your point, but your timeline is pretty far off. The first human gene therapy happened in 1990 so DNA has been a thing for awhile.
    - Retric 5y ago
      The first use of DNA in a criminal case only goes back to 1987. As such 30 years ago people generally weren’t really aware of generic testing or any of it’s implications outside of science fiction.
    - weaksauce 5y ago
      I am talking about DNA wrt crimes... it was first proposed as possible in 85 and in the early 90s used for it. I'd say my timeline was fairly ok give or take a few years for an off the cuff recollection of events.
riedel 5y ago
Would be rather interesting to create sth like bloom filters from ones DNA to find relatives. In contrast to phone numbers the DNA space here might really be big enough for private "contact" discovery to work ...
- beaugunderson 5y ago
  23andMe does this already; I've found relatives from some distant parts of the family this way!
jltsiren 5y ago
There is plenty of open software and data in genomics. The hard part is knowing what to do, using the software correctly, and interpreting the results. Bioinformatics is still mostly research-level work, so you'll need years of experience and lots of trial and error to get anything done.
- andai 5y ago
  I'd wager for most people, DNA still isn't a thing they're worried about.
gremloni 5y ago
I don’t know if it’s relevant anymore but I ran my SNP data through promethase years ago. It has a ridiculous amount of information.

I've been wary about submitting my DNA to a company so this is very intriguing. Is there enough data and/or a community and open software to support things like ancestry and disease profiles locally?

amelius 5y ago

Good question. I'm always afraid most of the useful medical data will be kept secret by these giant corporations, but let's hope this is not already the case.

searine 5y ago

Most of bioinformatics/computational biology is open source and so are most of the data sets. The companies that do this definitely have a 'special sauce' for ancestry, but most all of the disease annotations are public (see dbSNP). As for the paranoia about DNA companies, you are an anonymous drop in the ocean of sequenced DNA. There are laws against using it to inform insurance coverage. Sequencing yourself at one these companies and opting in for use in research is actually really important to collecting the sample sizes necessary to discover new causative variants for disease.

teachingassist 5y ago

It's tricky to organise, but in theory, yes, you can interpret your own results. Ancestry/23andme-type medical results are (in my opinion) almost entirely a nice write-up and display of public databases of research on SNPs, e.g. https://www.ncbi.nlm.nih.gov/snp/docs/entrez_help/ https://www.ncbi.nlm.nih.gov/snp/docs/entrez_help/, https://www.snpedia.com/ https://www.snpedia.com/ You could (for example) submit the data you get to Promethease which will do the processing for you. Promethease is now owned by MyHeritage, so I'm not sure how their terms are looking - I'd be a little cautious about using that.

caymanjim 5y ago

I've been curious about what my DNA says, and went so far as to buy a 23andme kit years ago. I never sent it in, because I don't like the idea of some company retaining that kind of deeply personal data about me. It's useless to resist, though; my sister and some cousins submitted theirs, and that's enough to destroy any real sense of anonymity I might have. I don't have any particular concern; it's just one of the myriad ways that privacy no longer exists.

weaksauce 5y ago
> I don't have any particular concern we don't have even the slightest idea of where it could go right now. look 30 years ago and DNA wasn't a thing that people were worried about and now it's catching sloppy criminals. the technology opens up new, unexpected opportunities
- adenadel 5y ago
  I get your point, but your timeline is pretty far off. The first human gene therapy happened in 1990 so DNA has been a thing for awhile.
  - Retric 5y ago
    The first use of DNA in a criminal case only goes back to 1987. As such 30 years ago people generally weren’t really aware of generic testing or any of it’s implications outside of science fiction.
  - weaksauce 5y ago
    I am talking about DNA wrt crimes... it was first proposed as possible in 85 and in the early 90s used for it. I'd say my timeline was fairly ok give or take a few years for an off the cuff recollection of events.

riedel 5y ago

Would be rather interesting to create sth like bloom filters from ones DNA to find relatives. In contrast to phone numbers the DNA space here might really be big enough for private "contact" discovery to work ...

beaugunderson 5y ago
23andMe does this already; I've found relatives from some distant parts of the family this way!

jltsiren 5y ago

There is plenty of open software and data in genomics. The hard part is knowing what to do, using the software correctly, and interpreting the results. Bioinformatics is still mostly research-level work, so you'll need years of experience and lots of trial and error to get anything done.

andai 5y ago
I'd wager for most people, DNA still isn't a thing they're worried about.

gremloni 5y ago

I don’t know if it’s relevant anymore but I ran my SNP data through promethase years ago. It has a ridiculous amount of information.