vitoraguiar.bsky.social - Profile | ThreadSky | a Reddit-style client for Bluesky

In Monte Carlo, Monaco, for the Keystone Symposium on B cells! On Wednesday, I will talk about our work on B cell activation.

submitted 37 days ago • 0 comments

Has anyone phased the srWGS data on AoU, and if so, have an estimate of the cost? 🧬

submitted 54 days ago • 2 comments

Question for you all: when you compute polygenic scores, do you sum up only effect alleles with positive betas, or just ALT alleles weighted by their beta whether they're negative or positive? 🤔

submitted 117 days ago • 1 comment

Dear bluesky friends, do you have recommendations for creating a data browser to be released along with a paper to allow users query expression of specific genes, cell type annotation on UMAPs, ATAC-seq peaks. Use shiny app? How to host it? How to make it robust and stable for multiple users?

submitted 120 days ago • 2 comments

I started listening to it yesterday in the train from NYC back to Boston. Started by the episodes with Aviv Regev, then George Church, and Todd Golub. It’s really great!

submitted 138 days ago • 0 comments

In NYC for the Lupus Research Alliance meeting.

submitted 140 days ago • 0 comments

Had a great day at the Broad Institute attending a talk by @bpasaniuc.bsky.social and later meeting with him to design future collaborations. It's a joy to be part of this community!

submitted 180 days ago • 0 comments

Estimates of the constraint metric s_het from @jkpritch.bsky.social work (doi.org/10.1038/s415...) for a curated list of lupus susceptibility genes. IKZF1 is the SLE risk gene with the most extreme selection on LOF mutations.

submitted 190 days ago • 0 comments

Thanks to Dr. Hai Fang and Cell Genomics for this piece that provides a nice summary and contextualization of our recent work: www.cell.com/cell-genomic...

submitted 201 days ago • 0 comments

I’ve selected the latest paper by @kauralasoo.bsky.social group to discuss in our journal club this Friday. I’d love to know which papers you all are discussing in your labs! www.cell.com/hgg-advances...

submitted 202 days ago • 1 comment

Brazil, you're setting new all-time-highs for activity on Bluesky! 🥇 Brasil, você está estabelecendo novos recordes de atividade no Bluesky! 🥇

submitted 213 days ago • 4430 comments

Latest work from the lab: 🧬 www.cell.com/cell-genomic...

submitted 216 days ago • 0 comments

I'm hiring! Currently accepting applications for center coordinator, bioinformatics engineer/scientist, and postdoctoral researcher. Please share with those that might be interested: genomeinformatics.github.io/jobs2024/

submitted 230 days ago • 1 comment

Glad to work with this group

submitted 254 days ago • 0 comments

I recently did a coloc analysis that surprised me for how it can be impacted by a single variant. I initially got colocalization for a given GWAS locus with 254 eQTL catalogue datasets (PP4>0.75). But, after removing a single variant with p = 10^-80 that violates HWE, I get only 13 colocalizations.

submitted 257 days ago • 1 comment

Whaaat

submitted 257 days ago • 0 comments

It was a very inspiring talk!

submitted 333 days ago • 0 comments

From Wu et al, Genome Bio, 2023: "Currently, SEESAW does not support alignment of haplotypes across individuals of different genotype. [...] It would require further work for the methods presented here to group individuals by their haplotype combinations per gene and perform across-sample inference"

submitted 333 days ago • 1 comment

I've just registered to attend this lecture by @mollyprz.bsky.social on May 2nd here in Cambridge, MA. hmsc.harvard.edu/calendar_eve...

submitted 347 days ago • 0 comments

Is there a resource of _fine-mapped_ GWAS variants (across many traits)? Ideally with PIPs. Sadly the download link for this causalDB website (www.mulinlab.org/causaldb/ind...) is broken :(

submitted 349 days ago • 0 comments

I haven't been able to replicate colocs found with @eQTLCatalogue v5 using the v6 data. The summ stats for the dataset/gene/molecular_traits in question are not even available via API anymore. Culprit may be the new fine-mapping-based filtering of summ stats. It worries me a bit. Anyone else?

submitted 433 days ago • 0 comments

Spreading the word: The Nigrovic lab (Boston Children's Hospital) is seeking new postdoctoral fellows in the fields of (1) non-coding genetic variants in human autoimmunity and (2) megakaryocyte-neutrophil emperipolesis using 2-photon microscopy and other methods.

submitted 439 days ago • 0 comments

The brilliant work by Joyce Kang (Raychaudhuri lab) on the dynamic genetic control of HLA expression across immune cell states is now published in Nature Genetics. rdcu.be/dsrz2

submitted 487 days ago • 0 comments

Are any of you familiar with the QuASAR method for allele-specific expression? doi.org/10.1093/bioi... If my interpretation is correct, it throws away relevant data. See here: github.com/piquelab/QuA... Btw, let me know if you have a favorite method to model ASE accounting for overdispersion 🧬

submitted 516 days ago • 0 comments

Sad to miss #ASHG2023 but I will advertise a talk by Nicolaj Hackert and Dany Salinas!

submitted 517 days ago • 1 comment

Glad to see this out. It’s always lovely to collaborate with the Nigrovic Lab at Boston Children’s. www.cell.com/cell-genomic...

submitted 522 days ago • 0 comments

Interested in doing a PhD with me in Sweden? Experimental+computational genomics skills and/or interests? We have an open position! Great environment at KTH on @SciLifeLab campus, staff benefits, well-funded project, close interactions with our New York team. kth.varbi.com/en/what:job/...

submitted 544 days ago • 1 comment

I'm delighted to release the first half of my new textbook in human genetics: web.stanford.edu/group/pritch... "An Owner's Guide to the Human Genome: an introduction to human population genetics, variation and disease"

submitted 547 days ago • 8 comments

Fresh work from the lab!👇🏼

submitted 552 days ago • 0 comments

Introducing the Data Science Postdoctoral Fellows Program at Harvard/DFCI! - Join a research group in our department - Co-mentoring opportunities with 2+ faculty - Collaborate with DFCI investigators beyond our department - Salary starts at $75K Apply here: ds.dfci.harvard.edu/postdocs/

submitted 559 days ago • 0 comments

I've just registered for the PQG Conference (Diversity in Genetics and Genomics) in Boston this October. I didn't submit an abstract as the topic is a bit far from my current research, but I hope to get inspiration for a grant proposal that I've been working on! www.hsph.harvard.edu/pqg-conferen...

submitted 564 days ago • 0 comments