Vitor Aguiar
@vitoraguiar.bsky.social
Instructor at Boston Children’s Hospital, Harvard Medical School | Broad Institute.
Human genomics 🧬
Human genomics 🧬
Reposted by Vitor Aguiar
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/
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/
September 18, 2025 at 4:14 PM
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/
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/
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.
July 27, 2025 at 5:39 PM
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.
Reposted by Vitor Aguiar
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!
July 25, 2025 at 8:29 PM
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!
Reposted by Vitor Aguiar
Franklin W. Stahl, 95, Dies; Helped Create a ‘Beautiful’ DNA Experiment www.nytimes.com/2025/07/07/s...
Franklin W. Stahl, 95, Dies; Helped Create a ‘Beautiful’ DNA Experiment
www.nytimes.com
July 8, 2025 at 6:32 AM
Franklin W. Stahl, 95, Dies; Helped Create a ‘Beautiful’ DNA Experiment www.nytimes.com/2025/07/07/s...
Reposted by Vitor Aguiar
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?...
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?...
The Most Beautiful Experiment: Meselson and Stahl
YouTube video by Science Communication Lab
youtu.be
July 8, 2025 at 11:48 AM
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?...
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?...
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...
www.medrxiv.org/content/10.1...
May 28, 2025 at 4:00 PM
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...
www.medrxiv.org/content/10.1...
Reposted by Vitor Aguiar
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...
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...
www.medrxiv.org
May 24, 2025 at 4:33 PM
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...
Reposted by Vitor Aguiar
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...
www.ashg.org/meetings/202...
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.
www.ashg.org
May 22, 2025 at 3:34 AM
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...
www.ashg.org/meetings/202...
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.
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.
May 16, 2025 at 10:20 AM
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.
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.
Reposted by Vitor Aguiar
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 :)
Bringing the party in the desert to Maryland.
We are hiring postdocs & postbacs!
Please reach out :)
April 28, 2025 at 12:28 PM
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 :)
Bringing the party in the desert to Maryland.
We are hiring postdocs & postbacs!
Please reach out :)
In Monte Carlo, Monaco, for the Keystone Symposium on B cells! On Wednesday, I will talk about our work on B cell activation.
February 23, 2025 at 3:30 PM
In Monte Carlo, Monaco, for the Keystone Symposium on B cells! On Wednesday, I will talk about our work on B cell activation.
Reposted by Vitor Aguiar
Has anyone phased the srWGS data on AoU, and if so, have an estimate of the cost? 🧬
February 6, 2025 at 12:37 AM
Has anyone phased the srWGS data on AoU, and if so, have an estimate of the cost? 🧬
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? 🤔
December 5, 2024 at 5:40 PM
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? 🤔
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?
December 2, 2024 at 5:53 PM
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?
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!
Please subscribe to the Night Science Podcast where in each episode, two scientists – Martin Lercher and me – talk with a leading colleague about their creative process.
Apple: podcasts.apple.com/us/podcast/n...
Spotify: open.spotify.com/show/6berzd2...
Buzzsprout: www.buzzsprout.com/1744020/epis...
Apple: podcasts.apple.com/us/podcast/n...
Spotify: open.spotify.com/show/6berzd2...
Buzzsprout: www.buzzsprout.com/1744020/epis...
November 14, 2024 at 1:42 PM
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!
In NYC for the Lupus Research Alliance meeting.
November 12, 2024 at 11:26 AM
In NYC for the Lupus Research Alliance meeting.
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!
@bpasaniuc.bsky.social and later meeting with him to design future collaborations. It's a joy to be part of this community!
October 3, 2024 at 8:11 PM
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!
@bpasaniuc.bsky.social and later meeting with him to design future collaborations. It's a joy to be part of this community!
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.
September 23, 2024 at 3:13 PM
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.
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...
www.cell.com/cell-genomic...
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...
www.cell.com
September 12, 2024 at 7:26 PM
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...
www.cell.com/cell-genomic...
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...
I’d love to know which papers you all are discussing in your labs!
www.cell.com/hgg-advances...
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...
www.cell.com
September 10, 2024 at 10:47 PM
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...
I’d love to know which papers you all are discussing in your labs!
www.cell.com/hgg-advances...
Reposted by Vitor Aguiar
Brazil, you're setting new all-time-highs for activity on Bluesky! 🥇
Brasil, você está estabelecendo novos recordes de atividade no Bluesky! 🥇
Brasil, você está estabelecendo novos recordes de atividade no Bluesky! 🥇
August 30, 2024 at 8:56 PM
Brazil, you're setting new all-time-highs for activity on Bluesky! 🥇
Brasil, você está estabelecendo novos recordes de atividade no Bluesky! 🥇
Brasil, você está estabelecendo novos recordes de atividade no Bluesky! 🥇
Reposted by Vitor Aguiar
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/
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...
genomeinformatics.github.io
August 13, 2024 at 8:53 PM
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/