Vitor Aguiar @vitoraguiar.bsky.social · 25/08/2026It worked when I checked right after your message, but it looks like it's down again now! 100
Reposted by Vitor AguiarMaria Gutierrez-Arcelus @mariagtac.bsky.social · 31/07/2026How do genetic #riskvariants translate into cellular dysfunction in #autoimmunedisease? Excited to share our latest preprint “Variant-to-function mapping in lupus links IL12A to the expansion of disease-associated B cells with a cytotoxic program” www.medrxiv.org/content/10.6...medrxiv.orgVariant-to-function mapping in lupus links IL12A to the expansion of disease-associated B cells with a cytotoxic programSystemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by over 200 risk variants identified through genome-wide association studies. While the majority of these are non-codin... 114
Vitor Aguiar @vitoraguiar.bsky.social · 09/06/2026Love the portal, but it's been non-functional for me the last couple of days. Hope it's back up soon! 100
Vitor Aguiar @vitoraguiar.bsky.social · 03/05/2026I just ordered an M5 MBP to replace my Intel one, but tbh I’m not sure I even need a Pro over an Air. I mostly just use it to access the HPC and with external display. I do appreciate the HDMI port and the card slot on the Pro though :) 010
Reposted by Vitor AguiarJ. Craig Venter Institute @jcvi.org · 30/04/2026It is with great sadness that we announce J. Craig Venter has died. 🧪🧬 www.jcvi.org/media-center...jcvi.orgJ. Craig Venter, genomics pioneer and founder of JCVI and Diploid Genomics, Inc., dies at 79La Jolla, California—April 29, 2026—The J. Craig Venter Institute (JCVI) announced that J. Craig Venter, Ph.D., the Institute’s founder, board... 3187123
Vitor Aguiar @vitoraguiar.bsky.social · 05/03/2026This is not Brazilian Portuguese. It’s Cape Verdean Creole. 100
Vitor Aguiar @vitoraguiar.bsky.social · 13/10/2025Excited to be speaking at #ASHG2025 this week in Boston! 050
Reposted by Vitor AguiarJesse Engreitz @jengreitz.bsky.social · 18/09/2025Excited for a major milestone in our efforts to map enhancers and interpret variants in the human genome: The E2G Portal! e2g.stanford.edu This collates our predictions of enhancer-gene regulatory interactions across >1,600 cell types and tissues. Uses cases 👇 1/ 39242
Vitor Aguiar @vitoraguiar.bsky.social · 03/08/2025I’ve been working in R and shell scripting for 13yrs, always looking for an excuse to learn something else. I’ve explored C++, Julia & Rust, but without a real need (I’m not a tool developer), and given my limited time and other commitments, my interest always dies off. How can I make this work? 230
Vitor Aguiar @vitoraguiar.bsky.social · 31/07/2025Specifically: (1) I’m not a big fan of the click-to-insert citation interface — I’d much prefer the LaTeX-style \cite{key}; and (2) when I try to insert a citation in a particular spot, it often jumps and gets grouped with other set of citations in the same paragraph. I use the Chrome extension. 100
Vitor Aguiar @vitoraguiar.bsky.social · 31/07/2025I use Paperpile in Google Docs. It’s reliable, but I’m not so happy about usability. 100
Vitor Aguiar @vitoraguiar.bsky.social · 28/07/2025It gave me a different answer: The term “Manhattan plot” originated informally within the field of genetics, but there’s no clear record of who first coined it in a formal publication. The name seems to have evolved via community usage rather than being formally introduced by a specific individual 010
Vitor Aguiar @vitoraguiar.bsky.social · 27/07/2025Just finished Airborne by @carlzimmer.com and really enjoyed it. It’s not just a book about infectious diseases, but a fascinating story about how science gets done and the behind-the-scenes lives of the scientists working on it. 2304
Reposted by Vitor AguiarHakhamanesh Mostafavi @hakha.bsky.social · 25/07/2025I'm thrilled that my lab at NYU is now supported by an NIH MIRA grant! I'm looking to hire 1-2 senior lab members (outstanding postdoc candidates or experienced staff scientists) with expertise in computational or statistical methods in human genetics or genomics. Please share! 410750
Reposted by Vitor Aguiardl2409.bsky.social @dl2409.bsky.social · 08/07/2025Franklin W. Stahl, 95, Dies; Helped Create a ‘Beautiful’ DNA Experiment www.nytimes.com/2025/07/07/s...nytimes.comFranklin W. Stahl, 95, Dies; Helped Create a ‘Beautiful’ DNA Experiment 12413
Reposted by Vitor AguiarKeith Robison @omicsomics.bsky.social · 08/07/2025NYT reported the passing of Franklin Stahl Invest 20+ minutes of your time in this masterful documentary on “the most beautiful experiment in biology” as two friends joyfully relate how as young graduate students at they were entrusted with testing the Watson-Crick model youtu.be/7-tnuAqEp9g?...youtu.beThe Most Beautiful Experiment: Meselson and StahlYouTube video by Science Communication Lab 032
Vitor Aguiar @vitoraguiar.bsky.social · 15/06/2025To give it a try, I formatted my recent manuscript with Typst and updated the PDF on medRvix. Looks much better. A minor disappointment is that I need to accommodate big figures with legend on the next page, but “#figure( placement: auto)” does not work well with “set block(breakable: true)”. 011
Vitor Aguiar @vitoraguiar.bsky.social · 03/06/2025I guess my question is how I deal with co-authors who will ask for a Word document of the manuscript 100
Vitor Aguiar @vitoraguiar.bsky.social · 28/05/2025All data are available in a user-friendly interactive Shiny app that you can use to search your favorite genes across conditions (link in the Methods section). 131
Vitor Aguiar @vitoraguiar.bsky.social · 28/05/2025We also investigated splicing dynamics during activation, identifying stimulus-dependent alternative splicing events that affect gene function. 121
Vitor Aguiar @vitoraguiar.bsky.social · 28/05/2025We focused on the SLE-risk variant at the TNFSF4 locus, which lies in a stimulus-dependent open chromatin region, highlighting how studying B cell activation can inform variant function. 130
Vitor Aguiar @vitoraguiar.bsky.social · 28/05/2025We used ATAC-seq to understand chromatin remodeling during activation. We identified key transcription factors and found that stimulus-induced open chromatin regions are enriched for immune-mediated disease heritability. 120
Vitor Aguiar @vitoraguiar.bsky.social · 28/05/2025Using single-cell RNA-seq + CITE-seq, we showed how B cells differentiate under different stimuli, revealing stimulus-dependent fates. 120
Vitor Aguiar @vitoraguiar.bsky.social · 28/05/2025We used bulk RNA-seq to profile B cell transcriptional responses to different stimuli. We uncovered stimulus-dependent gene programs with distinct dynamics and functions. 120
Vitor Aguiar @vitoraguiar.bsky.social · 28/05/2025I’m excited to share my latest work with Marcella Franco, @mariagtac.bsky.social, and an amazing team. We used multi-omics to dissect key pathways of B cell activation, exploring gene programs, splicing, cell fates, and disease heritability in activated B cells. www.medrxiv.org/content/10.1... 11910
Reposted by Vitor AguiarMaria Gutierrez-Arcelus @mariagtac.bsky.social · 24/05/2025Do you have an interest in B cells and immune-mediated diseases? We generated a multiomics resource of human B cell activation and showed its utility for elucidating disease mechanisms. Check out our manuscript led by @vitoraguiar.bsky.social and Marcella Franco: www.medrxiv.org/content/10.1...medrxiv.orgA multi-omics resource of B cell activation reveals genetic mechanisms for immune-mediated diseasesMost genetic variants that confer risk of complex immune-mediated diseases (IMD) affect gene regulation in specific cell types. Their target genes and focus cell types are often unknown, partially bec... 074
Reposted by Vitor AguiarSarah Tishkoff, PhD @sarahtishkoff.bsky.social · 22/05/2025It's time to submit abstracts for ASHG 2025! It's going to be a fantastic meeting in Boston. Hope to see you there! www.ashg.org/meetings/202...ashg.orgAbstractsAbstract submission for ASHG 2025. We encourage you to submit your latest research on human genetics and genomics for programming at the ASHG 2025 Annual Meeting. 0126
Vitor Aguiar @vitoraguiar.bsky.social · 16/05/2025I am truly honored to have been awarded a Career Development Fellowship by Boston Children’s. I am grateful to my mentors and collaborators for all the support. Looking forward to bridging statistical and population genetics with the clinic to fight autoimmune diseases. 141
Vitor Aguiar @vitoraguiar.bsky.social · 12/05/2025We also have bunnies in Boston/Cambridge. Ah, and turkeys. 000
Reposted by Vitor AguiarMelissa Wilson @sexchrlab.bsky.social · 28/04/2025In December I accepted a position as a senior investigator at the NIH in the National Human Genome Research Institute & Center for Genomics and Data Science Research. Bringing the party in the desert to Maryland. We are hiring postdocs & postbacs! Please reach out :) 1319458
Vitor Aguiar @vitoraguiar.bsky.social · 23/02/2025In Monte Carlo, Monaco, for the Keystone Symposium on B cells! On Wednesday, I will talk about our work on B cell activation. 021
Reposted by Vitor AguiarNicholas Mancuso @nmancuso.bsky.social · 06/02/2025Has anyone phased the srWGS data on AoU, and if so, have an estimate of the cost? 🧬 245
Vitor Aguiar @vitoraguiar.bsky.social · 06/12/2024For example this discussion www.biostars.org/p/446173/ and discussion on Fig7 here: pmc.ncbi.nlm.nih.gov/articles/PMC... 100
Vitor Aguiar @vitoraguiar.bsky.social · 06/12/2024Thanks Samira! I also prefer to flip ref/alt alleles to define "effect" alleles with positive betas. However, that can introduce a complication in the analysis, and I wonder if it is necessary at all. Some people don't do it. 100
Vitor Aguiar @vitoraguiar.bsky.social · 05/12/2024Question 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? 🤔 030
Vitor Aguiar @vitoraguiar.bsky.social · 02/12/2024Thanks! I'll meet someone at our research computing department this week. I have not thought about the library though, I can try! 100
Vitor Aguiar @vitoraguiar.bsky.social · 02/12/2024Dear 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? 322
Vitor Aguiar @vitoraguiar.bsky.social · 14/11/2024I 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! 010
Vitor Aguiar @vitoraguiar.bsky.social · 12/11/2024In NYC for the Lupus Research Alliance meeting. 020
Vitor Aguiar @vitoraguiar.bsky.social · 03/10/2024Had 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! 000
Vitor Aguiar @vitoraguiar.bsky.social · 23/09/2024Estimates 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. 020
Vitor Aguiar @vitoraguiar.bsky.social · 12/09/2024Thanks 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...cell.comMissing regulatory effects and viral triggers explored for childhood-onset asthmaMissing regulatory effects of asthma genetic risks might be hidden within specific cell states. In this issue of Cell Genomics, Djeddi et al. uncover how airway epithelial cells, when activated by rhi... 000
Vitor Aguiar @vitoraguiar.bsky.social · 10/09/2024I’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...cell.comExtensive co-regulation of neighbouring genes complicates the use of eQTLs in target gene prioritisationLinking non-coding genetic variants from association studies to their causal target genes is an important challenge in human genetics. We evaluate three colocalisation and three Mendelian randomisatio... 111
Reposted by Vitor AguiarBluesky @bsky.app · 31/08/2024agora este é um aplicativo brasileiro 🫡 33518759011258
Reposted by Vitor AguiarBluesky @bsky.app · 30/08/2024Brazil, you're setting new all-time-highs for activity on Bluesky! 🥇 Brasil, você está estabelecendo novos recordes de atividade no Bluesky! 🥇 4365571495231
Vitor Aguiar @vitoraguiar.bsky.social · 01/09/2024Good to see you and @anavinuela.bsky.social here! 010
Vitor Aguiar @vitoraguiar.bsky.social · 01/09/2024In fact I’ve been here for almost a year. I can’t tolerate being in the same place as the X guy. The latest developments made it even more clear why. 210
Vitor Aguiar @vitoraguiar.bsky.social · 28/08/2024Latest work from the lab: 🧬 www.cell.com/cell-genomic...cell.comRhinovirus infection of airway epithelial cells uncovers the non-ciliated subset as a likely driver of genetic risk to childhood-onset asthmaDjeddi, Fernandez-Salinas, and colleagues gained new mechanistic insights into asthma by integrating genome-wide association study data with transcriptomic datasets of airway epithelial cells subject ... 000
Reposted by Vitor AguiarAdam Phillippy @aphillippy.bsky.social · 13/08/2024I'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/genomeinformatics.github.ioThe NHGRI Center for Genomics and Data Science Research is hiring!Join our team and contribute to the development of complete, personalized “telomere-to-telomere” (T2T) genome assemblies and the analysis of previously inaccessible regions of the genome! We are curre... 11733