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Vitor Aguiar

@vitoraguiar.bsky.social
242 followers 364 following 56 posts

Instructor at Boston Children’s Hospital, Harvard Medical School | Broad Institute. Human genomics 🧬

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Vitor Aguiar @vitoraguiar.bsky.social · 25/08/2026
It worked when I checked right after your message, but it looks like it's down again now!
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Maria Gutierrez-Arcelus @mariagtac.bsky.social · 31/07/2026
How 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.org
Variant-to-function mapping in lupus links IL12A to the expansion of disease-associated B cells with a cytotoxic program
Systemic 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...
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Vitor Aguiar @vitoraguiar.bsky.social · 09/06/2026
Love the portal, but it's been non-functional for me the last couple of days. Hope it's back up soon!
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Vitor Aguiar @vitoraguiar.bsky.social · 03/05/2026
I 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 :)
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J. Craig Venter Institute @jcvi.org · 30/04/2026
It is with great sadness that we announce J. Craig Venter has died. 🧪🧬 www.jcvi.org/media-center...
jcvi.org
J. Craig Venter, genomics pioneer and founder of JCVI and Diploid Genomics, Inc., dies at 79
La Jolla, California—April 29, 2026—The J. Craig Venter Institute (JCVI) announced that J. Craig Venter, Ph.D., the Institute’s founder, board...
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Vitor Aguiar @vitoraguiar.bsky.social · 05/03/2026
This is not Brazilian Portuguese. It’s Cape Verdean Creole.
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Vitor Aguiar @vitoraguiar.bsky.social · 13/10/2025
Excited to be speaking at #ASHG2025 this week in Boston!
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Jesse Engreitz @jengreitz.bsky.social · 18/09/2025
Excited 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/
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Vitor Aguiar @vitoraguiar.bsky.social · 03/08/2025
I’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?
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Vitor Aguiar @vitoraguiar.bsky.social · 31/07/2025
Specifically: (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.
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Vitor Aguiar @vitoraguiar.bsky.social · 31/07/2025
I use Paperpile in Google Docs. It’s reliable, but I’m not so happy about usability.
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Vitor Aguiar @vitoraguiar.bsky.social · 28/07/2025
It 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
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Vitor Aguiar @vitoraguiar.bsky.social · 27/07/2025
Just 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.
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Hakhamanesh Mostafavi @hakha.bsky.social · 25/07/2025
I'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!
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dl2409.bsky.social @dl2409.bsky.social · 08/07/2025
Franklin W. Stahl, 95, Dies; Helped Create a ‘Beautiful’ DNA Experiment www.nytimes.com/2025/07/07/s...
nytimes.com
Franklin W. Stahl, 95, Dies; Helped Create a ‘Beautiful’ DNA Experiment
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Keith Robison @omicsomics.bsky.social · 08/07/2025
NYT 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.be
The Most Beautiful Experiment: Meselson and Stahl
YouTube video by Science Communication Lab
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Vitor Aguiar @vitoraguiar.bsky.social · 15/06/2025
To 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)”.
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Vitor Aguiar @vitoraguiar.bsky.social · 03/06/2025
I guess my question is how I deal with co-authors who will ask for a Word document of the manuscript
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Vitor Aguiar @vitoraguiar.bsky.social · 28/05/2025
All 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).
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Vitor Aguiar @vitoraguiar.bsky.social · 28/05/2025
We also investigated splicing dynamics during activation, identifying stimulus-dependent alternative splicing events that affect gene function.
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Vitor Aguiar @vitoraguiar.bsky.social · 28/05/2025
We 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.
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Vitor Aguiar @vitoraguiar.bsky.social · 28/05/2025
We 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.
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Vitor Aguiar @vitoraguiar.bsky.social · 28/05/2025
Using single-cell RNA-seq + CITE-seq, we showed how B cells differentiate under different stimuli, revealing stimulus-dependent fates.
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Vitor Aguiar @vitoraguiar.bsky.social · 28/05/2025
We used bulk RNA-seq to profile B cell transcriptional responses to different stimuli. We uncovered stimulus-dependent gene programs with distinct dynamics and functions.
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Vitor Aguiar @vitoraguiar.bsky.social · 28/05/2025
I’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...
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Maria Gutierrez-Arcelus @mariagtac.bsky.social · 24/05/2025
Do 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.org
A multi-omics resource of B cell activation reveals genetic mechanisms for immune-mediated diseases
Most 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...
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Vitor Aguiar @vitoraguiar.bsky.social · 23/05/2025
Thank you, Ana!
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Sarah Tishkoff, PhD @sarahtishkoff.bsky.social · 22/05/2025
It'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.org
Abstracts
Abstract 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.
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Vitor Aguiar @vitoraguiar.bsky.social · 16/05/2025
I 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.
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Vitor Aguiar @vitoraguiar.bsky.social · 12/05/2025
We also have bunnies in Boston/Cambridge. Ah, and turkeys.
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Melissa Wilson @sexchrlab.bsky.social · 28/04/2025
In 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 :)
Smiling woman with brown hair, black jacket, green purse with a green baseball hat with a Gila monster on it, standing in front of a cherry tree covered in pink blossoms.
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Vitor Aguiar @vitoraguiar.bsky.social · 23/02/2025
In Monte Carlo, Monaco, for the Keystone Symposium on B cells! On Wednesday, I will talk about our work on B cell activation.
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Nicholas Mancuso @nmancuso.bsky.social · 06/02/2025
Has anyone phased the srWGS data on AoU, and if so, have an estimate of the cost? 🧬
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Vitor Aguiar @vitoraguiar.bsky.social · 06/12/2024
For example this discussion www.biostars.org/p/446173/ and discussion on Fig7 here: pmc.ncbi.nlm.nih.gov/articles/PMC...
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Vitor Aguiar @vitoraguiar.bsky.social · 06/12/2024
Thanks 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.
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Vitor Aguiar @vitoraguiar.bsky.social · 05/12/2024
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? 🤔
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Vitor Aguiar @vitoraguiar.bsky.social · 02/12/2024
Thanks! I'll meet someone at our research computing department this week. I have not thought about the library though, I can try!
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Vitor Aguiar @vitoraguiar.bsky.social · 02/12/2024
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?
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Vitor Aguiar @vitoraguiar.bsky.social · 14/11/2024
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!
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Vitor Aguiar @vitoraguiar.bsky.social · 12/11/2024
In NYC for the Lupus Research Alliance meeting.
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Vitor Aguiar @vitoraguiar.bsky.social · 03/10/2024
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!
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Vitor Aguiar @vitoraguiar.bsky.social · 23/09/2024
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.
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Vitor Aguiar @vitoraguiar.bsky.social · 12/09/2024
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...
cell.com
Missing regulatory effects and viral triggers explored for childhood-onset asthma
Missing 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...
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Vitor Aguiar @vitoraguiar.bsky.social · 10/09/2024
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...
cell.com
Extensive co-regulation of neighbouring genes complicates the use of eQTLs in target gene prioritisation
Linking 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...
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Bluesky @bsky.app · 31/08/2024
agora este é um aplicativo brasileiro 🫡
Miranda Cosgrove's character looking at a computer screen. O personagem de Miranda Cosgrove olhando para uma tela de computador.
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Bluesky @bsky.app · 30/08/2024
Brazil, you're setting new all-time-highs for activity on Bluesky! 🥇 Brasil, você está estabelecendo novos recordes de atividade no Bluesky! 🥇
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Vitor Aguiar @vitoraguiar.bsky.social · 01/09/2024
Good to see you and @anavinuela.bsky.social here!
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Vitor Aguiar @vitoraguiar.bsky.social · 01/09/2024
In 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.
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Vitor Aguiar @vitoraguiar.bsky.social · 28/08/2024
Latest work from the lab: 🧬 www.cell.com/cell-genomic...
cell.com
Rhinovirus infection of airway epithelial cells uncovers the non-ciliated subset as a likely driver of genetic risk to childhood-onset asthma
Djeddi, 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 ...
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Adam Phillippy @aphillippy.bsky.social · 13/08/2024
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/
genomeinformatics.github.io
The 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...
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