Today was a big day for us at the LilBUBome headquarters: after months of work, hundreds of emails back and forth and quite a few Skype meetings we made a preprint of our findings from LilBUB’s genome analysis public! If you are interested in reading it, you can find it here:
If you’re just wondering what the hell we’re talking about when we say ‘preprint of our findings’ and why it took so long to put it together here a brief summary: After we sequenced BUB’s genome we were pretty sure we’d found some interesting changes in her DNA that could explain the way she looked (we reported about it here), but the journey between “we’re pretty sure” to “we’re as certain as we can be” is long.
First, we spent some time performing ‘sanity checks’ to make sure the way we were looking at the DNA was correct: we looked at DNA changes other scientists had found, which are associated with known traits (for example being hairless or having curly hair) and then verified that BUB had the DNA sequence we’d expect based on her actual appearance.
Second, we tried to compile as much evidence as possible about the DNA changes we thought responsible for her osteopetrosis and polydactyly: we looked at data from mouse and human with similar mutations, and we thought about the effects these DNA changes would have on the molecular machinery of the cell and ultimately on the function(s) of cells.
Third, we thought about all the limitations of our study: could we have missed other important variants? How is BUB’s osteopetrosis and polydactyly different from that of other animals (and humans) with similar mutations?
Once we had assembled all this information, we put it all together in a scientific manuscript. By laying out the data this way other scientists (or anyone really) can judge for themselves if they agree with our analysis. They might have also have fresh ideas about what additional type of analysis that we could do. Or they might have different expertise than us, and be able to verify or disprove our findings. This process of checking our results is called ‘peer review’.
Traditionally, peer review is done by 2-3 selected researchers (called ‘reviewers’) after we submit our manuscript to a scientific journal. However, this process can take a while and we know that many of you have been waiting for these results for a long time, so we wanted to make them available as soon as possible. In addition, we would be very happy if more than just those selected reviewers read our paper. Which is why we posted the draft of our article online. Since this draft has not yet been subject to peer review it is called a ‘preprint’ and you should take the findings with a grain of salt – maybe they will change a bit based on the feedback we get. But for now, this is it!!
We are really looking forward to feedback on the manuscript from anyone and everyone who has time to read it, and please feel free to ask questions if you have any! We tried to make it as easy to read as possible, avoiding jargon as much as we could, but we know that parts of the text are probably still difficult. We hope to share a more easily understandable version with you soon, too.
Also, this work would not have been possible without all the wonderful people who backed the project (THANK YOU ALL!!!) and the amazing collaborators we’ve worked with, who shared data with us and helped with analysis and proofreading.