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Vitor Aguiar

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

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

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Reposted by Vitor Aguiar
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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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 · 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 · 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 · 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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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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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 · 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
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 · 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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Vitor Aguiar @vitoraguiar.bsky.social · 20/07/2024
Glad to work with this group
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Vitor Aguiar @vitoraguiar.bsky.social · 18/07/2024
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.
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Vitor Aguiar @vitoraguiar.bsky.social · 18/07/2024
Whaaat
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Vitor Aguiar @vitoraguiar.bsky.social · 03/05/2024
It was a very inspiring talk!
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Vitor Aguiar @vitoraguiar.bsky.social · 03/05/2024
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"
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Vitor Aguiar @vitoraguiar.bsky.social · 19/04/2024
I've just registered to attend this lecture by @mollyprz.bsky.social on May 2nd here in Cambridge, MA. hmsc.harvard.edu/calendar_eve...
hmsc.harvard.edu
Reading Genetic Tea Leaves – Harvard Museums of Science & Culture
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David A Knowles @davidaknowles.bsky.social · 17/04/2024
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 :(
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Vitor Aguiar @vitoraguiar.bsky.social · 23/01/2024
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?
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Vitor Aguiar @vitoraguiar.bsky.social · 18/01/2024
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.
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Vitor Aguiar @vitoraguiar.bsky.social · 01/12/2023
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
rdcu.be
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Vitor Aguiar @vitoraguiar.bsky.social · 02/11/2023
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 🧬
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Vitor Aguiar @vitoraguiar.bsky.social · 01/11/2023
Sad to miss #ASHG2023 but I will advertise a talk by Nicolaj Hackert and Dany Salinas!
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Vitor Aguiar @vitoraguiar.bsky.social · 27/10/2023
Glad to see this out. It’s always lovely to collaborate with the Nigrovic Lab at Boston Children’s. www.cell.com/cell-genomic...
cell.com
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Tuuli Lappalainen @tuuliel.bsky.social · 05/10/2023
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/...
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Jonathan Pritchard @jkpritch.bsky.social · 01/10/2023
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"
web.stanford.edu
An Owner's Guide to the Human Genome
An Owner's Guide to the Human Genome
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Vitor Aguiar @vitoraguiar.bsky.social · 27/09/2023
Fresh work from the lab!👇🏼
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Rafael Irizarry @rafalab.bsky.social · 20/09/2023
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/
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Vitor Aguiar @vitoraguiar.bsky.social · 15/09/2023
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...
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