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Amit Sud

@amitsud.bsky.social
203 followers 167 following 2 posts

haemato-oncologist & wellcometrust early career fellow. @sangerinstitute.bsky.social. @ox.ac.uk. 🧬🔴🔬💻🚴🏽‍♂️🥁🌱🌍

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Reposted by Amit Sud
medRxivpreprint @medrxivpreprint.bsky.social · 10/09/2026
The 14-protein lung cancer signature: questions of prediction, specificity, and causality www.medrxiv.org/content/10.64898/20…
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ACIR @acir-org.bsky.social · 09/08/2026
Nagler, Sud, and Ghannam et al. developed a droplet-based single-nucleus spatial transcriptomics platform, Slide-GoTags, that integrates genotyping, TCR sequencing, and snRNAseq from the same frozen section to map [...] @amitsud.bsky.social @harvardmed.bsky.social bit.ly/4fPg8jO
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Nature Biotechnology @natbiotech.nature.com · 23/07/2026
Single-nucleus multimodal spatial transcriptomics reveals spatial colocalization of neoantigen-expressing tumor cells and cognate T cells - @danafarber.bsky.social @harvardmed.bsky.social @broadinstitute.org www.nature.com/articles/s41...
nature.com
Single-nucleus multimodal spatial transcriptomics reveals spatial colocalization of neoantigen-expressing tumor cells and cognate T cells - Nature Biotechnology
Spatial relationships between tumor neoantigens and cognate T cells are studied.
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Houlston Lab, ICR @houlstonlab-icr.bsky.social · 19/01/2026
A appraisal of PRS informed prostate cancer screening by @amitsud.bsky.social, showing that the PRS approach resulted in more biopsies, fewer detections of clinically significant cancers, and increased overdiagnosis of low-grade tumours www.sciencedirect.com/science/arti...
sciencedirect.com
Comparison of Results from the BARCODE1 Study and Contemporary Prostate Cancer Screening Trials
Polygenic risk scores (PRSs) have generated considerable interest as a means of personalizing prostate cancer (PC) screening by stratifying individual…
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Reposted by Amit Sud
Houlston Lab, ICR @houlstonlab-icr.bsky.social · 20/02/2026
Our paper on mutational signatures was published earlier this week in @natgenet.nature.com We investigated mutations from #WGS in over 10k patients with 16 different cancers, from the @genomicsengland.bsky.social 100k Genomes Project www.nature.com/articles/s41... #cancer #genomics #signatures
nature.com
Comprehensive repertoire of the chromosomal alteration and mutational signatures across 16 cancer types - Nature Genetics
This study analyses whole-genome sequencing data of cancer samples from 10,983 patients and explores relationships among mutational signatures, various biomarkers and clinical outcomes.
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Reposted by Amit Sud
Houlston Lab, ICR @houlstonlab-icr.bsky.social · 16/04/2025
We are excited to announce our latest publication in #BloodCancerJournal of our Two-Sample MR analysis to investigate causal relationships between 446 immune cell traits and 6 B-cell malignancies 📄 www.nature.com/articles/s41... #cancer #genetics #Bcell #bloodcancer #drugdiscovery #MR
nature.com
Mendelian randomization of immune cell phenotypes to discover potential drug targets for B-cell malignancy - Blood Cancer Journal
Blood Cancer Journal - Mendelian randomization of immune cell phenotypes to discover potential drug targets for B-cell malignancy
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Houlston Lab, ICR @houlstonlab-icr.bsky.social · 17/04/2025
It's not all work and no play in the Houlston Lab. We had our annual #Easter taste test! Returning to hot cross buns this year. We went a bit maverick and allowed some more ... unconventional varieties! #hotcrossbuns #tastetests 📸: @jessicamayh.bsky.social
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Lars Velten @larsplus.bsky.social · 08/05/2025
Out in Cell @cp-cell.bsky.social: Design principles of cell-state-specific enhancers in hematopoiesis 🧬🩸 screen of fully synthetic enhancers in blood progenitors 🤖 AI that creates new cell state specific enhancers 🔍 negative synergies between TFs lead to specificity! www.cell.com/cell/fulltex... 🧵
cell.com
Design principles of cell-state-specific enhancers in hematopoiesis
Screen of minimalistic enhancers in blood progenitor cells demonstrates widespread dual activator-repressor function of transcription factors (TFs) and enables the model-guided design of cell-state-sp...
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Moritz Gerstung @moritzgerstung.bsky.social · 17/03/2025
Spatial transcriptomics holds great promise to understand biological tissue function, but the assignment of transcripts to cells has been a substantial bottleneck. For this reason, Elyas Heidari, a student in my lab and in @steglelab.bsky.social built segger. www.biorxiv.org/content/10.1...
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University of Oxford @ox.ac.uk · 06/02/2025
Using a photonic network interface, scientists from Oxford University have successfully linked two separate quantum processors to form a single, fully connected quantum computer, paving the way to tackling computational challenges previously out of reach. More info ⬇️
ox.ac.uk
First distributed quantum algorithm brings quantum supercomputers
In a milestone that brings quantum computing tangibly closer to large-scale practical use, scientists at Oxford University’s Department of Physics have demonstrated the first instance of distributed
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Andy Fraser @andyfraser.bsky.social · 04/02/2025
Delighted to share our latest paper describing a method to read the levels of hundreds of metabolites or drugs in parallel using DNA sequencing. This method, which we call ‘smol-seq’ (Small MOLecule sequencing), harnesses the power of DNA sequencing for metabolite detection: rdcu.be/d8xLv (1/6)
rdcu.be
Quantifying metabolites using structure-switching aptamers coupled to DNA sequencing
Nature Biotechnology - Metabolites can be quantified using a combination of aptamers and DNA barcodes.
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Sudarshan Pinglay @sudpinglay.bsky.social · 31/01/2025
Now out in @science.org w/ @jshendure.bsky.social we present 'Genome-shuffle-seq': a method to shuffle mammalian genomes and characterize the impact of structural variants (SVs) with single-cell resolution in one experiment. www.science.org/doi/10.1126/...
science.org
Multiplex generation and single-cell analysis of structural variants in mammalian genomes
Studying the functional consequences of structural variants (SVs) in mammalian genomes is challenging because (i) SVs arise much less commonly than single-nucleotide variants or small indels and (ii) ...
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Reposted by Amit Sud
Jay Shendure @jshendure.bsky.social · 17/01/2025
Beware! AAV libraries prone to length & homology dependent chimerism! Our latest preprint, from the brilliant @jblalanne.bsky.social‬, was a true surprise as related phenomena are textbook for lentivirus (highly relevant to HIV & Perturb-seq) yet to our reading not known for AAV tinyurl.com/5amc562a
tinyurl.com
Extensive length and homology dependent chimerism in pool-packaged AAV libraries
Adeno-associated viruses (AAVs) have emerged as the foremost gene therapy delivery vehicles due to their versatility, durability, and safety profile. Here we demonstrate extensive chimerism, manifesti...
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Reposted by Amit Sud
Leopold Parts @leopoldparts.bsky.social · 31/01/2025
We're delighted to share our work on scrambling the human genome using prime editing, repetitive elements, and recombinases in @science.org , led by @jonaskoeppel.bsky.social , @f-raphael.bsky.social , with @proftomellis.bsky.social and George Church. www.science.org/doi/10.1126/...
science.org
Randomizing the human genome by engineering recombination between repeat elements
We lack tools to edit DNA sequences at scales necessary to study 99% of the human genome that is noncoding. To address this gap, we applied CRISPR prime editing to insert recombination handles into re...
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Reposted by Amit Sud
Zixuan (Eleanor) Zhang @elezzx.bsky.social · 27/01/2025
Excited to present our work on developing jaxQTL, a fast single-cell eQTL mapping tool that improves power and robustness in identifying sc-eQTLs using count-based models. See details in threads 🧵 www.medrxiv.org/content/10.1...
medrxiv.org
Efficient count-based models improve power and robustness for large-scale single-cell eQTL mapping
Population-scale single-cell transcriptomic technologies (scRNA-seq) enable characterizing variant effects on gene regulation at the cellular level (e.g., single-cell eQTLs; sc-eQTLs). However, existi...
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Reposted by Amit Sud
Jonathan Pritchard @jkpritch.bsky.social · 27/01/2025
I posted a couple days ago about our new paper on building causal graphs from genetic associations + Perturb-seq. Here I want to expand on the value of using DIRECTIONAL information contained in LoF burden tests.🧵 [work led by @minetoota.bsky.social ] bsky.app/profile/jkpr...
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Sasha Gusev @sashagusevposts.bsky.social · 20/01/2025
How population stratification makes environments look like genes. A short 🧵:
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The New York Times @nytimes.com · 16/01/2025
The death of the surrealist film and television director David Lynch inspired tributes from fellow filmmakers, celebrities and past collaborators, who praised his visionary work and singular voice.
nytimes.com
The Entertainment World Mourns the ‘Dreamer’ Director David Lynch
Lynch’s death inspired tributes from fellow filmmakers, celebrities and past collaborators, who praised his visionary work and singular voice.
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Nadav Ahituv @nadavahituv.bsky.social · 15/01/2025
Massively parallel reporter assays (MPRAs) testing >680,000 sequences combined with machine learning to improve regulatory element & variant effect prediction. Amazing work by @vagar.bsky.social, Fumitaka Inoue, @jshendure.bsky.social and many others as part of ENCODE. www.nature.com/articles/s41...
nature.com
Massively parallel characterization of transcriptional regulatory elements - Nature
Lentivirus-based reporter assays for 680,000 regulatory sequences from three cell lines coupled to machine-learning models lead to insights into the grammar of cis-regulatory elements.
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Kristen V. Brown @kristenvbrown.bsky.social · 15/01/2025
I've written a lot about polygenic risk scores in DNA testing, which, for at least the time being, are regarded as largely unhelpful (at best). That's because these tests analyze many genes to predict risk of a condition. With our current knowledge of the genome, that's just tough to do.
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Mike Spencer Chapman @mikespencerchapman.bsky.social · 15/01/2025
In science, we often see weird blips in the data. The question: is it artefact (usually!), or something new & exciting? We don’t always have time to dig deep. Our paper in @nature.com today came from just such a blip. So don’t ignore the weird stuff. Pull on that thread...
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EMBL-EBI @ebi.embl.org · 14/01/2025
Osteosarcoma, an aggressive bone cancer, most commonly affects children and young adults. New research solves the mystery of what drives the genomic rearrangements causing the aggressive development and evolution of osteosarcoma tumours. www.ebi.ac.uk/about/news/r... 🧪
ebi.ac.uk
Researchers uncover what drives aggressive bone cancer
Study identifies a novel mechanism driving osteosarcoma and provides insights to help predict patient outcomes.
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Reposted by Amit Sud
Nature Reviews Cancer @natrevcancer.nature.com · 14/01/2025
go.nature.com
Decoding the functional impact of the cancer genome through protein–protein interactions
Nature Reviews Cancer, Published online: 14 January 2025; doi:10.1038/s41568-024-00784-6Genomic mutations can be translated into modified functional proteins, impacting protein–protein interactions (PPIs) and thus altering cellular functions. In this…
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Anneke Lucassen @alucassen.bsky.social · 12/01/2025
We held a great launch meeting at @cpmoxford.bsky.social last week for our award from #RHO to research health #inequalities and #ethnicity in the NHS genomic medicine service. Great discussions from @medesh.bsky.social @bughayleyw.pharmsky.app and many others [apols 4 ltd knowledge bsk addrs] 1/8
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Matt Howard @matthewkhoward.bsky.social · 06/01/2025
Happy New Year! (and first post here 😀) Excited to share the final version of our work where we combine deep mutational scanning, cryo-EM, and molecular dynamics to further resolve the mechanisms of pH sensing in GPCRs. 🧵(1/n) www.cell.com/cell/fulltex...
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Damon K @dadadrummer.bsky.social · 31/12/2024
BBC Radio4 is celebrating a hundred years of the Shipping Forecast this New Year’s Day - as loyal listeners, here’s our contribution damonandnaomi.bandcamp.com/track/sailin...
damonandnaomi.bandcamp.com
Sailing By, by Damon & Naomi
from the album A Sky Record
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Reposted by Amit Sud
The New York Times @nytimes.com · 29/12/2024
From @nytopinion.nytimes.com Jimmy Carter “described his second career as ‘waging peace.’ That work remains far from finished, and it remains for those who admired Mr. Carter to continue,” the editorial board writes.
nyti.ms
Opinion | America Needs More Jimmy Carters
He was a model ex-president and achieved a great deal in office.
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Bret Freudenthal @freudlab.bsky.social · 24/12/2024
Our final paper of 2024 is a great collaborative effort between multiple genome stability groups (Steve Roberts & David Cortez). Kudos to the extremely talented scientists - @tmweaver.bsky.social @k4v1.bsky.social, Justin Ling, and Cameron Cordero. www.nature.com/articles/s41...
nature.com
Contributing factors to the oxidation-induced mutational landscape in human cells - Nature Communications
8-oxoG is a common single-base DNA lesion caused by oxidative stress. Here, authors characterize the mutational signature of potassium bromate (KBrO3) exposure, the chromatin structural determinants o...
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Benjamin Schuster-Böckler @dagams.bsky.social · 02/12/2024
I'm going to repost a #thread here about a recent #paper from my group together with the labs of Marketa Tomkova and Skirmantas Kriaucionis: nature.com/articles/s41588-024-01945-x In it, we show that epigenetic DNA methylation causes errors during DNA replication! #epigenetics #mutations 1/🧵
nature.com
Human DNA polymerase ε is a source of C>T mutations at CpG dinucleotides - Nature Genetics
A new method called polymerase error rate sequencing (PER-seq) can measure the nucleotide misincorporation rate of DNA polymerases. DNA polymerase ε mutants produce an excess of CpG<TpG errors duri...
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William DeWitt @wsdewitt.github.io · 12/12/2024
This work finds that costly foundation models are outperformed by CNNs in genomics benchmarks, and are outperformed by *linear* autoregression in time-series benchmarks. 👀
arxiv.org
Specialized Foundation Models Struggle to Beat Supervised Baselines
Following its success for vision and text, the "foundation model" (FM) paradigm -- pretraining large models on massive data, then fine-tuning on target tasks -- has rapidly expanded to domains in the ...
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Corey Watson @cdubsig.bsky.social · 18/12/2024
Check out long-read sequencing results in human IGH! HUGE duplications in constant gene regions...and 7 copies of IGHV3-23 on one haplotype! @lossiusandreas.bsky.social @williamlees.bsky.social www.biorxiv.org/content/10.1...
biorxiv.org
Ultra-long sequencing for contiguous haplotype resolution of the human immunoglobulin heavy chain locus
Genetic diversity within the human immunoglobulin heavy chain (IGH) locus influences the expressed antibody repertoire and susceptibility to infectious and autoimmune diseases. However, repetitive seq...
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bioRxiv Genomics @biorxiv-genomic.bsky.social · 16/12/2024
Specificity, length, and luck: How genes are prioritized by rare and common variant association studies www.biorxiv.org/content/10.1101/202…
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Nuffield Department of Medicine @ndm.ox.ac.uk · 12/12/2024
Prof @alucassen.bsky.social is the new Academic Champion for Public and Community Engagement with Research!👏 With expertise in integrating community engagement into translational research, Prof Anneke will pioneer the 2024-2029 strategy. Read more 👉 buff.ly/4ivFnIj
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Jonathan Pritchard @jkpritch.bsky.social · 11/12/2024
Beautiful work led by Maya Arce from Marson lab reveals a fascinating story about rewiring of a critical gene regulatory circuit in different T cell types: T effectors and Tregs www.nature.com/articles/s41...
nature.com
Central control of dynamic gene circuits governs T cell rest and activation - Nature
Resting and activated T cell states are established by context-specific regulators and dynamic gene circuits.
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FT Visual & Data Journalism @data.ft.com · 09/12/2024
High Pacific surface temperatures fuel record warm year 📊 www.ft.com/content/54401156-2a87-43…
ft.com
High Pacific surface temperatures fuel record warm year
News, analysis and comment from the Financial Times, the worldʼs leading global business publication
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FT Visual & Data Journalism @data.ft.com · 07/12/2024
Climate graphic of the week: First ice-free day in the Arctic Ocean may come before 2030, study shows 📊 www.ft.com/content/63fbcf2b-9acc-4c…
ft.com
Climate graphic of the week: First ice-free day in the Arctic Ocean may come before 2030, study shows
News, analysis and comment from the Financial Times, the worldʼs leading global business publication
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Tomàs Montserrat Ayuso @tmontsay.bsky.social · 03/12/2024
Not checking nuclear markers like MALAT1 or intronic reads in your scRNA-seq data?🚨 We show their power to flag low-quality cells—even in top public datasets. It’s time to prioritize better QC for cleaner, more reliable genomics research! Read more: bmcgenomics.biomedcentral.com/articles/10.... 1/8
bmcgenomics.biomedcentral.com
High content of nuclei-free low-quality cells in reference single-cell atlases: a call for more stringent quality control using nuclear fraction - BMC Genomics
The advent of droplet-based single-cell RNA-sequencing (scRNA-seq) has dramatically increased data throughput, enabling the release of a diverse array of tissue cell atlases to the public. However, we...
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Bjarni Vilhjalmsson @bvilhjal.bsky.social · 02/12/2024
Check out our (Emil Pedersen, Theresa Wimberley, and me) news and views out today in Nature Genetics, highlighting the importance of selection bias and information bias in genetic studies. #statgen #genepi #selectionbias eur01.safelinks.protection.outlook.com?url=https%3A...
eur01.safelinks.protection.outlook.com
A cautionary tale for Alzheimer’s disease GWAS by proxy - Nature Genetics
Using reported parental disease history to decipher the genetics of Alzheimer’s disease may be promising, but this approach is also susceptible to complex selection and information bias that can misle...
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Anna Obenauf @obenaufa.bsky.social · 27/11/2024
1/23 Big news for the #ObenaufLab! So excited to finally share our new study providing another puzzle piece, why immunotherapy fails in many tumors, now out in @Nature 🧵👇 www.nature.com/articles/s41...
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Jonathan Pritchard @jkpritch.bsky.social · 22/11/2024
In a new preprint led by @TheNikhilMilind, we explored a fascinating paradox: For many traits the number of duplications or loss-of-function (LoF) mutations is correlated with phenotype. Curiously, for most traits, the AVERAGE direction of LoFs and Dups is the SAME. Why?
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The New York Times @nytimes.com · 21/11/2024
Marcella Hazan’s bolognese has been called “the gold standard” and has more than 20,000 5-star reviews. Try it and see for yourself. nyti.ms/40X1mla
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Emilie Wigdor @emiliewigdor.bsky.social · 20/11/2024
📣 Big news! Our tag-team effort on common variants in rare neurodevelopmental conditions is now out in Nature 📣 Co-first authoring with the brilliant Qinqin Huang🌟—proof that teamwork does make the dream work. 💪 www.nature.com/articles/s41...
media.tenor.com
a couple of cartoon characters standing next to each other with one wearing a purple earring
Alt: a couple of cartoon characters standing next to each other with one wearing a purple earring
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Josh Tycko @joshtycko.com · 18/11/2024
New here and excited to share our new paper on transcriptional effectors! Interested to discuss context-specificity of gene regulation? Or how to get CRISPRi/a working in new contexts? 👋 www.nature.com/articles/s41...
nature.com
Development of compact transcriptional effectors using high-throughput measurements in diverse contexts - Nature Biotechnology
Improved effectors for CRISPRi/CRISPRa are developed following high-throughput screening of transcriptional domains.
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Jonathan Mosley @jdmosley-moses.bsky.social · 16/11/2024
A reminder that polygenic risk scores (#PRS) are calculated, not measured, risk factors. Results will vary. jamanetwork.com/journals/jam...
jamanetwork.com
Evaluating Performance and Agreement of Coronary Heart Disease Polygenic Risk Scores
This study aims to characterize the individual-level agreement of polygenic risk scores for coronary heart disease that perform similarly at the population level.
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