Tag Archives: personalized medicine

SNPpets_2

Friday SNPpets

This week was big on #CRISPR stuff. That drama about the off-target alterations, and the pushback, consumed much oxygen. But there’s plenty of the usual stuff too–new software, personalized medicine marches on, DTC genetic testing issues, new samples from ancient sources. Best thing: the script to convert fastq to emojis.

Oh–I’m off next week because I’ll be on the road without much chance to capture the tweets with my butterfly net.


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 includes one of those stories that reminds me of the power of databases. See that diagnostic odyssey of a family with a child with mystery symptoms and the doctor who sleuthed out some information–then connected with other families awaiting answers (Hudson Alpha tweet). But then there’s also the looming issues of misuse of information, two tweets on that this week. More tools. More genomes. Wild plants, wild viruses, wild ancestors. Reactome graphical components are popular–if you make them, people will use them.


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/genetics_blog/status/867075369643511809A

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, DNA was indicted and decades later led to a conviction. Genomes of birch trees and shape-shifting butterflies. And the most interesting stuff to me is non-human, but dbSNP will stop accepting non-human species info. Sigh. Well, I do think alternative splicing is interesting too, and we have some of that this week. Human gene editing, tumors, and various types of personalized genomics were out and about this week as well. It’s not that I dislike humans (all the time), but I’m sort of agnostic on 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…


Friday SNPpets

This week was a busy and diverse week. From Bioinformatics as an Amusement Park, to the very serious FDA approval of 23andMe’s reports. From Lenski’s April Fool’s post to cancer databases. From diagnosing children with genomics details, to CRISPR sci-fi. We live in interesting times. But at least now we will be able to see everybody citing everybody else.


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…


Friday SNPpets

This week we find that all biology is computational biology. And that coding is missing. And I loved the knitted example of chromosomes–knitting is code. Also, some new misuse of data, and new appropriate uses. Get a fungus mug. Patients are going to be getting data, but nobody in the public knows about it. It’s a secret.


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…


check that one for embedded tweet too

Friday SNPpets

This week I gave a pub talk on the UCSC Genome Browser. It was the first time I’d tried a more general-public version of this. It was huge fun. And it was great timing to have this example of 5000+ samples from autism families to make the case about how hard it is to visualize all this data we are getting. But I also talked about microbes. I even mentioned to goat genome. The benefits and the trip-wires of misuse of personalized data were covered. We touched on restoration of extinct species. So it was a lot like this post, actually…. But I didn’t have the threat to GINA until today. Alas–I would like to have included that. I can’t believe we’re back there.


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 have a pretty typical list of both new and updated sites and tools. The wheat genome (not gluten-free). A couple of key bits for folks who are scripting calls to NCBI (need to use https soon), or for folks in Asia who could use a UCSC Genome Browser mirror site closer to their location: http://genome-asia.ucsc.edu/. But my favorite thing this week was the best postdoc ad on twitter evah–see the snake one.


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/Sara_and_Snakes/status/742891484064546816

SNPpets_2

Friday SNPpets

This week’s SNPpets offer a rather eclectic collection. Visualization with PanViz, LepBase for lepidopterans, a simulated data generator, and a new collection of community-curated phylogenetic estimates. But the big noise was the cancer “moonshot” data commons and the clinical trial for NCI-MATCH and precision medicine. Also newborn genome sequencing. Funniest thing: passive-aggresive bioinformatics. Coolest thing: Paul Simon and CRISPR (scroll to the bottom of the list).


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…


Mygene2_vid

Video Tip of the Week: MyGene2, connecting families with rare conditions with each other

Last week’s tip encouraged people to think about how their DNA may be used by various stakeholders. This could be researchers, physicians, pharmaceutical companies, and so on. But one thing it didn’t really cover–now that I think of it–was connecting with other families who may share variations that impact the health of someone in their household. If there isn’t research, or treatment, this connection alone might be worth it for some families.

So when NPR recently had a story on a database for families with rare genetic conditions, I went to have a look: Families Isolated By Rare Genetic Conditions Find New Ways To Reach Out.

The site is MyGene2, and it can help unrelated folks who have the same genome challenges connect with each other. It also can connect folks to researchers interested in the topic. But it does seem to be aimed more specifically at families seeking each other. It was recently awarded  a chance to compete for the final prize in the Open Science Prize effort, and they got a funding boost to keep going.

There is a “welcome” video that they’ve made, but it’s light on the software details. Still, though, I wanted to share the information so families may find it, and researchers may want to know about this resources as well. The video isn’t embeddable, though, so you’ll have to click to view it:

Mygene2_vid

You can learn more about the resources from their FAQ collection. I’ve found a couple of references (below) that provide some further information about the project [Note: the Genetics in Medicine one goes to a paywalled, piece–but you can access the pre-print version PDF at bioRxiv]. As more and more families who are seeking answers will have sequencing information available, they’ll need a place to go with that. I hope they find each other, and find answers.

Quick links:

MyGene2: http://www.mygene2.org

Follow them on twitter: https://twitter.com/MyGene2

Find them on Facebook: https://www.facebook.com/MyGene2/

(The Genetics in Medicine piece also notes My46.org, “a web-based tool for managing return of genetic test results”.)

References:

Panko, B. (2016). Six finalists to compete for Open Science Prize Science DOI: 10.1126/science.aaf9980

Chong, J., Yu, J., Lorentzen, P., Park, K., Jamal, S., Tabor, H., Rauch, A., Saenz, M., Boltshauser, E., Patterson, K., Nickerson, D., & Bamshad, M. (2015). Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features Genetics in Medicine DOI: 10.1038/gim.2015.161