J.J. Emerson 艾偉傑 🖥️🧬

@jjemerson.bsky.social

Evolutionary geneticist at UCI. JJ_Emerson on http://ecoevo.social.

M

The centromere performs an essential function during cell division, yet its DNA sequence can evolve remarkably rapidly—a puzzle known as the centromere paradox. How can function remain conserved when sequence does not? 🧵 1/4

I’m always astounded when I remember that Gene Myers may be the most profound contributor among all bioinformaticians if you measure by how often his work is used by others. His diff algorithm is the basis for git diff. Just a weird little factoid that lives rent free in my brain.

It's so gratifying to see colleagues doing great things! Alex Samano and @mahulchak.bsky.social's latest paper is now in early access in Genome Research. It's a great read. Also, of the 13 authors, 11 are undergrads! genome.cshlp.org/content/earl...

Structural variants are enriched in deleterious visible phenotypes in Drosophila

Genome structural variants (SVs) comprise a sizable portion of functionally important genetic variation; yet, many evade discovery using short reads. While long-read sequencing can reveal hidden SVs, their role in organismal trait variation remains largely unclear. To address this gap, we investigate the molecular basis of 50 classical phenotypes in 11 Drosophila melanogaster strains using highly contiguous de novo genome assemblies generated with Oxford Nanopore Technologies long reads. These assemblies enable construction of a pangenome graph containing nucleotide-resolution maps of SVs, including complex rearrangements such as the interchromosomal inverted duplication Dp(2;4)eyD and large tandem duplications at the Bar locus. We uncover new candidate causal mutations for 15 phenotypes and new molecular alleles for 2 mutations comprising tandem duplications, transposable element (TE) insertions, and indels. For example, the wing vein phenotype plexus (px1) links to a 1.5 kb partial tandem gene duplication, and the century-old Curved (c1) wing phenotype links to a 7.5 kb DM412 retrotransposon disrupting the coding sequence of the muscle protein gene Strn-Mlck. We also identify a candidate intergenic enhancer for AblpeyD, a finding supported by CRISPR-Cas9. We also unveil 8 SV alleles of previously identified causal genes, including uncharacterized SVs underlying the extensively studied white and yellow phenotypes. Overall, 67.4% of genes causing phenotypic changes harbor candidate SVs >100 bp, whereas only 28% are expected based on euchromatic SVs. Together, our results indicate that SVs are strongly enriched among this class of large-effect, deleterious visible phenotypes in Drosophila.

genome.cshlp.org

Wow, I never really noticed this 'fastp' software. I'm apparently the only one though. They simply re-used an existing name already employed by popular and historically significant software. How is this kind of thing possible? academic.oup.com/bioinformati...

fastp: an ultra-fast all-in-one FASTQ preprocessor

AbstractMotivation. Quality control and preprocessing of FASTQ files are essential to providing clean data for downstream analysis. Traditionally, a differ

academic.oup.com

1/12 Excited to share our new paper. Many essential functions, like DNA packaging and chromosome integrity, are encoded in highly repetitive, "recalcitrant" parts of the genome. But these regions have been incredibly hard to study. Until now. genome.cshlp.org/content/35/9...

Genetic variation in recalcitrant repetitive regions of the Drosophila melanogaster genome

An international, peer-reviewed genome sciences journal featuring outstanding original research that offers novel insights into the biology of all organisms

genome.cshlp.org

M

Fellow #Drosophila researchers! Ever wondered about the genome sequence of your lab strain or the balancers? Check out our Drosophila Laboratory Pangenome Database, featuring a growing collection of reference genome assemblies for popular D. melanogaster strains! github.com/chakrabortym...

GitHub - chakrabortymlab/DLPD: code and scripts relevant to the Drosophila Laboratory Pangenome Database

code and scripts relevant to the Drosophila Laboratory Pangenome Database - chakrabortymlab/DLPD

github.com

Huh, I have the inverse reaction. Private institutions aren't fundamentally pedagogically oriented these days. Rather the opposite really. State institutions have explicit, legislated pedagogical goals that aren't inherently in tension with maintaining endowment performance.

jon ben-menachem@jbenmenachem.com · 10mo ago

Harvard is the 'best case scenario' for US research pedagogy (at least, financially). They have a $57bn endowment. I think the takeaway here is that the days of most PhD programs in the US are numbered

This is horribly misguided. Preprints are nothing more than vehicles for disseminating work that is nominally unreviewed. Preprints don't serve an anti-science agenda outside of how they are employed. Scientists are already skeptical of journals they aren't familiar with. I don't see the difference.

David Green, PhD@ecologistgreen.bsky.social · last yr.

Who’s with me? #PeerReview ensures the integrity of scientific knowledge. Science isn’t social media, and it’s dangerous to treat it as such. For this reason, I believe preprints serve an anti-science agenda & threaten our fields. Check out my editorial in @ScholarlyKitchen.bsky.social. 🧪 #SciPub

So far, my most significant/consistent use of LLMs is to ensure my e-mail correspondence is polite and concise. I'm still not confident in doing more than experiment on using it for anything else. To be clear, I haven't coded too much lately, so maybe it will shine there when I get around to it.

I've come to view eLife's various initiatives as a reflection of the academic incentives familiar to its creators. The drive for "innovation" or a push to "experiment" with different models is what an academic scientist would do. And an academic scientist would also exaggerate just how novel...

Shawn Burgess @burgesslab.bsky.social · 2y ago

This is the foundational argument that eLife uses for its "publication" model. There are strident opponents to this idea.

With the exception of the last clause, I wholeheartedly agree. However, haphazard engagement of preprinted material is not a reliable way to solicit peer engagement with scientific work. The preprints that receive substantive engagement are a small non-representative proportion of total work.

Michael Eisen@mbeisen.bsky.social · 2y ago

A truly bold public access policy would completely dissociate the NIH from the world of journals by refusing to pay into the corrupt and corrupting journal system, and directing NIH grantees to publish their work as preprints, exposing it to real and ongoing scrutiny.

My twitter account has been closed and locked since November 2022, but I had left the posts up until now. I just deleted the entire thing in 15 minutes, thanks to a great script from Luca Hammer: github.com/lucahammer/t... Thanks to @amyhoy.bsky.social and @thomasfuchs.at for steering me there.

GitHub - lucahammer/tweetXer: Delete all your Tweets for free

Delete all your Tweets for free. Contribute to lucahammer/tweetXer development by creating an account on GitHub.

github.com

What is going on with follow requests lately? I think my follower count has doubled in the past few weeks alone. Don't get me wrong, it's great. But I can't even keep up with them all. Are other people also experiencing this? Platform tweak, exodus from the other place, both?

It's awesome to get a shiny new computer or laptop, but most of us dislike setting it up. What's the most useful setup task you always procrastinate on because you forgot how to do it since you only do it once when setting up a new system? For me, it has to be setting up ssh keys with my servers.

I used to get annoyed at bad behavior on social media. The "reply guys", trolls, engagement baiters, grifters, etc. drove me nuts*. But I also wanted the free wheeling conversations that an unfettered platform provides. I realize now that, even with blocking, muting, selective engagement, etc...