Tag Archives: personal genomics

SNPpets_2

Friday SNPpets

This week I left the “call to action” tweet at the top–you could vote for GenBank every day until the end of the competition. On other fronts, there’s big media on Venter’s DNA re-identification article–but there’s also significant blowback on that. A series of tweets in there gets to that. Otherwise, more of the other cool things in genomics around the tools available and around other species.


SNPpets_2Welcome to our Friday feature link collection: SNPpets. During the week we come across a lot of links and reads that we think are interesting, but don’t make it to a blog post. Here they are for your enjoyment…


 

SNPpets_2

Friday SNPpets

This week I left the “call to action” tweet at the top–you can vote for GenBank every day in August. And I know it’s September now, but I wanted to go and check–and they made it to the final four! So go vote for GenBank some more. Same link works fine. Other things this week: NYTimes shows more stories of people whose recreational genomics endeavors reveal family secrets. One of them is what’s in the reference genome? I don’t think the answer came up completely clearly, but it reminds me I want to look into that again. The breakthrough cancer diagnostics kit is approved. The girlfriend meme. And one more example of how far ahead agriculture is on genomics.


SNPpets_2Welcome to our Friday feature link collection: SNPpets. During the week we come across a lot of links and reads that we think are interesting, but don’t make it to a blog post. Here they are for your enjoyment…


This seems to be the answer:

SNPpets_2

Friday SNPpets

This week I left the “call to action” tweet at the top–you can vote for GenBank every day. But the other tweets are new this week. First, don’t fall for the fake grant scam. A catalog of museum samples (I love the data from sequencing projects using those), genotyping arrays vs. sequencing debate and a lot of new data that’s been released, fungi and E. coli data, a terrible DNA joke, and a terrible use of DNA testing to see how white a White Nationalist is.


SNPpets_2Welcome to our Friday feature link collection: SNPpets. During the week we come across a lot of links and reads that we think are interesting, but don’t make it to a blog post. Here they are for your enjoyment…


https://twitter.com/surt_lab/status/897187105495019520

SNPpets_2

Friday SNPpets

This week was yummy. Apple epigenome and a new corn assembly, in time for your northern hemisphere summer picnics. Marine protists for you to think about during your walks on the beach. The return of the Venn, and a guide to PCA plots. A very cool set of human protein complexes. Synbio tools.

My favorite this week, though, was the sequencing of different parts of a 200+ year old oak tree. That is a cool idea.


SNPpets_2Welcome to our Friday feature link collection: SNPpets. During the week we come across a lot of links and reads that we think are interesting, but don’t make it to a blog post. Here they are for your enjoyment…


https://twitter.com/CSHL/status/874282809761910784

https://twitter.com/nekton4plankton/status/874357230866317313

dtc_testing

Video Tip of the Week: Direct to Consumer Genetic Testing and Genetic Counselling

At OpenHelix, we remember the days when people didn’t even barely have documentation with their software when they put it out (yah, I know, it still varies). But outreach really is getting better. There are journals now that are also enforcing more reader-friendly ways to describe the research, with non-jargon summaries and some terrific visual aids.

Increasingly, there are also videos associated with papers. I just came across this one, and thought it was a nice example of an important issue for non-scientists to access.

So this looks at direct-to-consumer (DTC) services available in Europe, but some of the same ones are available in the US. Of course, in the US, as we muck around with health care again and what is/is not a pre-existing condition, the advice might be different. Sigh.

Hat tip:

Reference:

Middleton, A., Mendes, Á., Benjamin, C. M., & Howard, H. C. (2017). Direct-to-consumer genetic testing: where and how does genetic counseling fit?. Personalized Medicine, (14:3) , Pages 249-257 , DOI 10.2217/pme-2017-0001.

 

SNPpets_2

Friday SNPpets

This week’s SNPpets include items just posted to bioRxiv–which is lately where I see all the really intriguing tools. Including the awesomely-named “Clusterflock”. In a popular related item, someone responds to the Biostar question, “why are there errors in bioinformatics software?”. We have bat and bean genomics. And conch and lobster DNA. There’s at least 2 efforts to coordinate/wrangle human public genomes. And more.


SNPpets_2Welcome to our Friday feature link collection: SNPpets. During the week we come across a lot of links and reads that we think are interesting, but don’t make it to a blog post. Here they are for your enjoyment…


SNPpets_2

Friday SNPpets

This week’s SNPpets include a popular slide deck that illustrates roads that go to bioinformatics; questions of what to do with your own genome data (assuming you aren’t a PhD in bioinformatics); fast identification of bacterial strains with StrainSeeker; and the epigenomic landscape of prokaryotes;  the ancestors of cultivated peanuts sequenced; a cancer tool with proteomics coactivation pairs; very cool detailed visualization of tissue-level data that offers new insights; and microbiomes abound.


SNPpets_2Welcome to our Friday feature link collection: SNPpets. During the week we come across a lot of links and reads that we think are interesting, but don’t make it to a blog post. Here they are for your enjoyment…


SNPpets_2

Friday SNPpets

This week’s SNPpets include quite a range of things. New species genomes projects (pineapple is out, bauhinia being crowdfunded). I dare you to resist a tool called “Time Curves“.  The pre-print on over 60k protein coding human variations. Updates via FlyBase and discussed for QIIME. Best quip of the week: You can buy a DNA test on Amazon and it costs less than the textbook about it. A couple of items on bioinformatics pain. Some new solutions. And more….


SNPpets_2Welcome to our Friday feature link collection: SNPpets. During the week we come across a lot of links and reads that we think are interesting, but don’t make it to a blog post. Here they are for your enjoyment…


 

SNPpets_2

Friday SNPpets

This week’s SNPpets include a lot of back-and-forth on the artist formerly known as personal genomics (now personalized medicine). We got the EU mucking up access, we have privacy issues unearthed, we have the cost of variant calling–and the uncounted cost of other analyses. But we also have the importance of genome sharing. There’s a follow-up story on the kid who was the “first child saved by genome sequencing”. Also some cool research on “essential” human genes. New databases or updates, as usual (dbGaP is one I need to go deeper on). And more….


SNPpets_2Welcome to our Friday feature link collection: SNPpets. During the week we come across a lot of links and reads that we think are interesting, but don’t make it to a blog post. Here they are for your enjoyment…


 

Biostars

What’s the Answer? (genomics guidance for the general public)

This week’s highlighted discussion at Biostars was one that I opened. I’ve been thinking a lot about this, because I’m seeing it come up in a number of different ways. There are folks who are googling and finding genomics nerds in a variety of places. Some of the communities will be more welcoming than others. But I think it’s in our best interest to be helpful to families with data, and not come off too harsh because it’s not exactly how our forum works….


Biostars is a site for asking, answering and discussing bioinformatics questions and issues. We are members of the Biostars_logo community and find it very useful. Often questions and answers arise at Biostars that are germane to our readers (end users of genomics resources). Thursdays we will be highlighting one of those items or discussions here in this thread. You can ask questions in this thread, or you can always join in at Biostars.


Forum: For the general public seeking advice from this community

Hello folks–

Yesterday I saw a thread posted by a member of the general public, looking for advice for their child’s medical issues. This thread has been deleted (I think), but I was able to read some of the commentary before it disappeared.

The community had some concerns about private medical information being revealed. And some concerns about seeking advice from strangers on the internet instead of qualified practitioners in real life. These are valid issues.

However, my point is more general. This may become increasingly an issue here as more people have (or hear about) sequence information, and want some advice for it. I think it is wise for this community to stay away from diagnosis. But I think we could offer these folks some guidance to appropriate resources.

Please have some compassion for the desperation that the parents of kids with undiagnosed conditions face. And keep in mind that their thresholds for privacy are not the same as everyone else, possibly. And understand that they are hearing stories about how familes connected with researchers who could help them from random internet forums. The most recent one I saw was this: Answers.

But other stories like this are widely read: How Genome Sequencing Creates Communities Around Rare Disorders.

Could we possibly have a place to point these families, like a thread that we can sticky or something? Where we can offer them connections to the Rare Disease sequencing projects, or genetic counseling resources, non-wonky information sources like Genetics Home Reference, or something? The international group here probably could collect a good set of pointers for people around the world.

I guess I’m asking for a constructive place for some guidance for families, and a policy about how to deal with those kinds of threads.

Open for discussion.

Has any of the genomics nerd discussion communities developed a policy on this? Should we reach out to genetic counselors, maybe? We may also need legal advice. Anyone seen other places take this on? Please add your thoughts over at Biostars.