Genetics Information Chat
Thursday, February 18, 2016
9:00 pm Eastern/6:00 pm Pacific time
Led by Amy Donahue (@ultimatelibrarn)
The field of genetics is fascinating and huge. Although the Human Genome Project waaay back in 2001 came to the surprising conclusion that there are only 20,000-25,000 genes within the DNA of the human genome (roughly the same number as a mouse), the past few years have seen an explosion of knowledge that our genes are just the tip of the iceberg. That tip is still rather literally the tip of an iceberg and so is pretty freaking big - take, for example, that we now know we have genes that can be alternatively spliced, shredding the idea of one gene --> one protein. It's also been proven that some genes can literally move from chromosome to chromosome; these fun guys are called transposons or "jumping genes". And then epigenetics and the death of the idea of "junk" (non-protein coding - doesn't mean it's junk!) DNA are making things even more complicated.Oh, and of course, by definition every living thing has a genome, and there are plenty of people doing research outside of the human context. Did you know that prokaryotes have DNA that's being translated at the same time it's being transcribed? Or that there are frogs with 12 sets of chromosomes (humans have 2)? What about those pesky viruses? Yep, they have genomes, too, even if they aren't quite living.Talk about information overload. Luckily, #medlibs are pros at dealing with that issue, and this chat is one of the tools at our disposal. And we were told we should be doing this stuff even before the rough draft of the human genome was available. Obviously, there are a lot of ways this conversation can go, but a few places we might be able to get started include:
- What genetic questions are #medlibs being asked, and how have you answered?
- What are some good resources for consumer-level information on genetics?
- What are SNPs/"variants of uncertain significance"/polymorphisms/
insert your favorite not-quite-understood genetic term here?
This conversation can be patient/human disease driven, but even the crazy-out-there bacterial genome studies are of relevance to human health (heard of the microbiome yet?), so come with any and all genetic lines of thought, and we'll see where we go!
Some resources to get us started:
- Need some background on basic genetics? Try the University of Utah or Columbia University
- Become familiar with the many genetic resources provided by NCBI (of note: ClinVar and the Genetic Testing Registry)
- Be sure to also check out the really helpful "How To" list for things like how to find genes associated with a disease.
- NLM's Genetics Home Reference may sometimes leave something to be desired, but it's still where many genetic counselors start.
- Goodbye Junk DNA! (Article - the ENCODE project is good to know about)
- Into social media? Of course you are! Check out the hashtags and people to follow. (You do have to sort through the conferences. #GCchat is the genetic counseling version of #medlibs! There's also a Genetic Counseling Twitter list.)
- If you really want to start digging into this stuff professionally, I do really recommend the in-person "Librarian's Guide to NCBI" - keep your eyes out for calls to register, and in the meantime check out archived materials, other NCBI training and watch for things from your local NN/LM site!
Join us on Twitter using the #medlibs hashtag Thursday evening to share your stories and engage with colleagues. Never been to a Twitter chat before? Check out this overview and come on in - all are welcome including first timers, lurkers, students and others interested in the topic and the field.