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Benedict Paten

@benedictpaten.bsky.social
1.2K followers 392 following 7 posts

Professor of Biomolecular Engineering at the University of California, Santa Cruz; Associate Director, UC Santa Cruz Genomics Institute

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Reposted by Benedict Paten
Adam Phillippy @aphillippy.bsky.social · 06/08/2026
For the past 30 years, “whole-genome sequencing” has been a misnomer. Today the T2T Consortium publishes a dozen papers heralding a future of truly complete genomes for humans and nearly any vertebrate 👨‍🔬🐒🐦🐀🦒🐎🫏🐹🐟 (sorry, no salamanders): www.cell.com/consortium/t... 🧵[1/15]
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UC Santa Cruz Genomics Institute @ucscgenomics.bsky.social · 06/08/2026
We’ve sequenced a marmoset! Grad student @prajnahebbar.bsky.social & @benedictpaten.bsky.social led the effort, and expect it to enable scientists to learn more about genes that contribute to memory loss and Alzheimer's. 🔗https://news.ucsc.edu/2026/08/first-complete-marmoset-genome/
A quote from Prajna Hebbar, graduate student at UC Santa Cruz and lead author on the T2T marmoset paper, reads "Routine T2T genomics is making findings easier... It's great to be in an era where we're not stuck with the technical problems- we can go into the biology and make discoveries relevant to human health." A small monkey is pictured on the side.
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jamelle @jamellebouie.net · 22/05/2026
Abrego Garcia should apply for compensation from the weaponization fund
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Aaron Stewart-Ahn @badideas.bsky.social · 25/01/2026
A video of Alex Pretti reading out the final salute of an unnamed veteran he cared for until the end of his life in the ICU, posted to Facebook by his son.
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Gwen C. Katz @gwenckatz.bsky.social · 18/10/2025
I saw a tragically AI-generated version of this poster, so I have recreated a 100% human-made version for all your protest sign needs.
The Obama Hope poster, but it's a frog and it says "Hop"
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Xian Chang @xian-chang.bsky.social · 02/10/2025
🦒Long read giraffe is out!🦒 Mapping long reads to pangenome graphs is ~10x faster than with GraphAligner, with veeery slightly better mapping accuracy, short variant calling, and SV genotyping than GraphAligner or Minimap2
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Adam Phillippy @aphillippy.bsky.social · 22/09/2025
Delighted to finally announce a preprint describing the Q100 project! “A complete diploid human genome benchmark for personalized genomics” For which we finished HG002 to near-perfect accuracy: www.biorxiv.org/content/10.1... 🧵[1/14]
biorxiv.org
A complete diploid human genome benchmark for personalized genomics
Human genome resequencing typically involves mapping reads to a reference genome to call variants; however, this approach suffers from both technical and reference biases, leaving many duplicated and ...
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Mike Inouye @mikeinouye.bsky.social · 05/06/2025
📣 Latest from the lab: Performance of deep-learning-based approaches to improve polygenic scores www.nature.com/articles/s41... Its thought deep learning will substantially improve PGS but the reality is MANY have tried but no/little gain has been seen so far. Here we report our negative results.
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Jouni Sirén @jltsiren.bsky.social · 15/05/2025
A new preprint on indexing pangenome graphs using an FM-index of the haplotypes and a tag array. Joint work with Parsa Eskandar and @benedictpaten.bsky.social.
biorxiv.org
Lossless Pangenome Indexing Using Tag Arrays
Pangenome graphs represent the genomic variation by encoding multiple haplotypes within a unified graph structure. However, efficient and lossless indexing of such structures remains challenging due t...
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Human Pangenome Reference Consortium @humanpangenome.bsky.social · 12/05/2025
📢 HPRC Release 2 is here! Now with phased genomes from 200+ individuals, a 5x increase from Release 1. Explore sequencing data, assemblies, annotations & alignments in our interactive data explorer ⬇️: humanpangenome.org/hprc-data-re...
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Adam Phillippy @aphillippy.bsky.social · 12/05/2025
The human pangenome continues to grow and improve! Release 2 is here! Click through for the details, but this is a pretty amazing dataset including not just the phased assemblies, but PacBio HiFi, ONT Ultralong, Dovetail/Illumina Hi-C, PacBio Kinnex, and Illumina WGS for all samples
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The Serfs (youtube.com/theserfstv) @theserfstv.bsky.social · 18/04/2025
An innocent man who committed no crime but is the same race as the person who murdered your daughter should have to spend the rest of his life in a concentration camp is the argument?
@ABC
Patty Morin, whose daughter Rachel was murdered by a migrant without legal status in 2023, criticized her senator, Chris Van Hollen, for flying to El Salvador to advocate for Kilmar Abrego Garcia in an unrelated immigration case. https://abcnews.link/vxXfL69
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Heng Li @lh3lh3.bsky.social · 18/04/2025
Minimap2-2.29 released with the support of short RNA-seq read alignment. More explanation and results here: lh3.github.io/2025/04/18/s...
lh3.github.io
Short RNA-seq read alignment with minimap2
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Heng Li @lh3lh3.bsky.social · 18/04/2025
Preprint on hifiasm Nanopore-only assembly. Led by Haoyu Cheng: www.biorxiv.org/content/10.1...
biorxiv.org
Efficient near telomere-to-telomere assembly of Nanopore Simplex reads
Telomere-to-telomere (T2T) assembly is the ultimate goal for de novo genome assembly. Existing algorithms capable of near T2T assembly all require Oxford Nanopore Technologies (ONT) ultra-long reads w...
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Floris Barthel @florisbarthel.bsky.social · 16/04/2025
🚨 Pre-print alert! 🚨 We generated chromosome-scale diploid genome assemblies for the widely used fibroblast lines BJ and IMR-90. These models of replicative senescence and telomere shortening now have fully resolved telomeres, subtelomeres, and centromeres. 🧬 🧵👇
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Adam Phillippy @aphillippy.bsky.social · 09/04/2025
A project five years in the making, we've now published complete "T2T" genomes for six additional ape species! It turns out that finishing (and analyzing) six genomes is slightly more work than one... doi.org/10.1038/s415...
A phylogeny of the 7 ape genomes that have now been completed from "T2T", with Homer Simpson representing mankind.
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Nature @nature.com · 09/04/2025
Nature research paper: Complete sequencing of ape genomes go.nature.com/3EfWwqk
go.nature.com
Complete sequencing of ape genomes - Nature
Complete sequences of chromosomes telomere-to-telomere from chimpanzee, bonobo, gorilla, Bornean orangutan, Sumatran orangutan and siamang provide a comprehensive and valuable resource for future evolutionary comparisons.
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Molly Jong-Fast @mollyjongfast.bsky.social · 04/04/2025
I kind of want to go
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Nikki McCann Ramírez @nikkimcr.bsky.social · 05/04/2025
"The outcome of this is basically the creation of this transnational penal colony where a president, a head of state, can make a deal with President Bukele and disappear undesirables indefinitely.” Read my full report here: www.rollingstone.com/politics/pol...
rollingstone.com
The 'Judicial Black Hole' of El Salvador's Prisons Is a Warning for Americans
Donald Trump is cementing a partnership with El Salvador President Nayib Bukele, whose assault on civil rights is being mirrored in the U.S.
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Nature Biotechnology @natbiotech.nature.com · 04/04/2025
Severus detects somatic structural variation and complex rearrangements in cancer genomes using long-read sequencing - @mishakolmogorov.bsky.social go.nature.com/3R334eH
go.nature.com
Severus detects somatic structural variation and complex rearrangements in cancer genomes using long-read sequencing - Nature Biotechnology
Complex structural variations and rearrangements in cancer are identified using long-read sequencing.
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Ian Boudreau @ianboudreau.com · 03/04/2025
Everyone wants there to be a grand scheme behind all of this but the terrible truth is that extremely stupid people are in charge and they have a fanatical devotion to wrong, childlike concepts of society and economics cooked up by right wing radio hosts in order to sell tainted dietary supplements
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News Eye @newseye.bsky.social · 03/04/2025
22 weeks apart.
Two front pages of the Economist. The first is dated October 25, 2024 and says “The Envy of the Workd” and has dollars bill rocketing into the sky in celebration of the US economy.
The second front page is dated this week April 5th. It’s headline is “Ruination Day” and pictures Trump sawing a hole in the group the shape of the US.
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Senator Mark Warner @markwarner.bsky.social · 28/03/2025
We should all be terrified to live in an America where legal residents can be detained, held at gunpoint, or deported because of the color of their skin or because the President disagrees with their views.
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Heng Li @lh3lh3.bsky.social · 24/03/2025
longcallD is a new variant caller for genomic long reads. It jointly calls phased small and structural variants. Single binary, one command line for the whole process. Comparable accuracy to mainstream callers. Great work by Yan Gao. github.com/yangao07/lon...
github.com
GitHub - yangao07/longcallD: A local-haplotagging-based small and structural variant caller
A local-haplotagging-based small and structural variant caller - yangao07/longcallD
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Xian Chang @xian-chang.bsky.social · 21/03/2025
I'm very excited to share that I defended my thesis this week! I helped develop algorithms to combat reference #bias and make genomics more #equitable and #representative by incorporating genetic #diversity into genomics pipelines
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Sherry Pagoto, PhD @drsherrypagoto.bsky.social · 12/03/2025
New report shows that NIH grants fueled $95 billion in economic activity and 407,782 jobs in 2024. That's not to mention the countless lives that biomedical research has saved. Show me a better investment than that. www.forbes.com/sites/michae...
forbes.com
NIH Grants Fueled $95 Billion In FY 2024 Economic Activity, Finds New Report
National Institutes of Health grants generated almost $95 billion in economic activity nationwide in FY 2024 according to a new report by United for Medical Research.
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Karen Miga @khmiga.bsky.social · 07/03/2025
#standupforscience #slugforscience
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Benedict Paten @benedictpaten.bsky.social · 07/03/2025
Standing up for science in the redwoods :)
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John Skiles Skinner @skiles.blue · 01/03/2025
I got laid off today, with the rest of 18F. 18F was an elite federal software shop. We made gov't websites work better, more efficiently for the American people. We saved taxpayers from getting screwed over by contractors. And were fired for it. We made this website to tell our story: 18f.org
18f.org
We're not done yet | 18F
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Senator Bernie Sanders @sanders.senate.gov · 28/02/2025
Trump berates Zelensky, the leader of a democratic country courageously fighting Russian imperialism, while he allies himself with Putin, a dictator who started the bloodiest European war in 80 years. Sorry, President Trump. We believe in democracy, not authoritarianism.
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BWJones @bwjones.bsky.social · 27/02/2025
By @katherinejwu.com "The NIH... supported 99 percent of the drugs approved in the U.S. from 2010 to 2019. The agency has had a hand in “nearly all of our major medical breakthroughs over the past several decades,” The NIH is in a struggle for its (and our) lives. This is existential to America:
theatlantic.com
Inside the Collapse at NIH
Administration officials pressured NIH to avoid clear advice from the agency’s own lawyers to restart grant funding now.
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Colette Delawalla, PhD @cdelawalla.bsky.social · 10/02/2025
Get in dorks, we're going protesting! STAND UP FOR SCIENCE WITH US ON MARCH 7TH, 2025 WASHINGTON DC AND EVERY STATE CAPITOL Because science is for everyone! Find us at www.standupforscience2025.org #standupforscience2025 #scienceforall #sciencenotsilence
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Katie Sandlin @kmsandlin.bsky.social · 14/02/2025
Today, along with 2,000 other NIH employees, I had to clear out my office 😭 It was truly the honor of my life to work with such incredibly passionate people focused on improving human health. I’ve never experienced a more positive culture where *everyone* cared about their job and serving others.
Office desk without any personal items or decor
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Michael Baym @baym.lol · 14/02/2025
It’s a good day to be a preventable disease
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Eric Umansky @ericumansky.bsky.social · 10/02/2025
Courts *ordered* the Trump admin to stop its spending freeze Yet ProPublica found place after place where $ is still frozen -hot meals for elderly and disabled -groceries for those in need -maternal & child health services -a clinic that serves the poor www.propublica.org/article/trum...
propublica.org
The Courts Blocked Trump’s Federal Funding Freeze. Agencies Are Withholding Money Anyway.
Agencies continue to suspend funding, despite multiple court orders blocking the federal freeze. Experts say the Trump administration’s actions set the stage for challenges to Congress’ authority — an...
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Carl T. Bergstrom @carlbergstrom.com · 08/02/2025
1. Today the NIH director issued a new directive slashing overhead rates to 15%. I want to provide some context on what that means and why it matters. grants.nih.gov/grants/guide...
grants.nih.gov
NOT-OD-25-068: Supplemental Guidance to the 2024 NIH Grants Policy Statement: Indirect Cost Rates
NIH Funding Opportunities and Notices in the NIH Guide for Grants and Contracts: Supplemental Guidance to the 2024 NIH Grants Policy Statement: Indirect Cost Rates NOT-OD-25-068. OD
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Carolyn Bertozzi @carolynbertozzi.bskyverified.social · 07/02/2025
Decimating the NSF would be an act of violence against USA competitiveness in science, technology and innovation. Have any of these people seen Shanghai lately? arstechnica.com/science/2025...
arstechnica.com
White House budget proposal could shatter the National Science Foundation
“This kind of cut would kill American science and boost China.”…
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UC Santa Cruz Genomics Institute @ucscgenomics.bsky.social · 24/01/2025
Researchers at @ucsantacruz.bsky.social have demonstrated how long-read sequencing could improve detection of diseases that have eluded diagnosis, at a fraction of the cost. New clinical tests could be on the way. 🗞 news.ucsc.edu/2025/01/pate... 👏🏼👏🏿👏🏾 @khmiga.bsky.social @benedictpaten.bsky.social
Quote: Long read sequencing is likely the next best test for unsolved cases... It can serve as a single diagnostic test, reducing the need for multiple clinical visits and transforming a years-long diagnostic journey into a matter of hours. Shloka Negi, UC Santa Cruz
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Ed Hawkins @edhawkins.org · 10/01/2025
The data is in. 2024 was the warmest year on record, and probably in the whole of human history – about 1.6°C warmer than the pre-industrial period. More than 1 billion individual thermometer measurements, made by thousands of people over many decades, have been condensed into a single number.
Warming stripes for 1850-2024, changing from blues to reds as the world rapidly warms up
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Rebekah Jones @georebekah.bsky.social · 08/01/2025
ABC, NBC & CBS dedicated about 16 minutes of airtime last night to the California wildfires without once mentioning climate change. Since the news failed do it's job, here's a short summary of the role of climate change and wildfire risk: www.noaa.gov/noaa-wildfir...
noaa.gov
Wildfire climate connection
Climate change, including increased heat, extended drought, and a thirsty atmosphere, has been a key driver in increasing the risk and extent of wildfires in the western United States during the last ...
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UC Santa Cruz Genomics Institute @ucscgenomics.bsky.social · 16/12/2024
Calling all postdocs! We're hosting a symposium in beautiful Santa Cruz, CA, to showcase rising talent in genomics research. Travel expenses are covered for selected applicants ✈️😎🏖 The event will be held on April 15. Applications due Feb 15: bit.ly/NextWave25
A photo of a large rock formation along a beautiful Santa Cruz coastline. Text reads: Next Wave of Faculty in Genomics Symposium call for submissions. Submission deadline Feb 15. Symposium Date April 15.
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Ben Langmead @benlangmead.bsky.social · 11/12/2024
Very excited to see Movi (by @mohsenzakeri.bsky.social) now out in iScience: www.cell.com/iscience/ful.... Movi builds on the "move structure" pangenome index, a compressed full-text index and close cousin to r-index. Compared to r-index, the move structure is simpler and more cache-efficient.
cell.com
Movi: A fast and cache-efficient full-text pangenome index
Biocomputational method; Classification of bioinformatical subject; Genomic analysis
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UC Santa Cruz Genomics Institute @ucscgenomics.bsky.social · 21/11/2024
New @dockstore.org update! Our free registry for sharing analytical tools and workflows for bioinformatics has gotten even better with: 🤖 AI based automatic topic sentence generation. 📚 Automatic DOI generation and discovery 🔎 Improved search results genomics.wordpress.ucsc.edu/news/2024/11...
Dockstore logo
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Adam Phillippy @aphillippy.bsky.social · 27/09/2024
"The formation and propagation of human Robertsonian chromosomes" ROBs are the most common translocation in humans, approx. ~1 per 800 people. Last year we proposed a simple mechanism for ROB formation; This year we prove it by finishing some T2T! New preprint: www.biorxiv.org/content/10.1...
Schematic of Robertsonian chromosome formationFISH image and schematic of a complete Robertsonian chromosome
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Benedict Paten @benedictpaten.bsky.social · 12/09/2024
Note, also similar nice results and ideas from @benlangmead.bsky.social's lab: www.biorxiv.org/content/10.1...
biorxiv.org
Minimizing Reference Bias with an Impute-First Approach
bioRxiv - the preprint server for biology, operated by Cold Spring Harbor Laboratory, a research and educational institution
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Benedict Paten @benedictpaten.bsky.social · 12/09/2024
Out today in Nature Methods, our first attempt make personalized pangenomes: rdcu.be/dTD3o In the future it will vital to subset pangenomes to just the relevant haplotypes for a compared sample. Work by Jouni Siren, Matteo Ungaro, Parsa Eskander, vg team (github.com/vgteam/vg), and many others.
rdcu.be
Personalized pangenome references
Nature Methods - This work introduces a k-mer-based approach to customizing a pangenome reference, making it more relevant to a new sample of interest. This method enhances the accuracy of...
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Benedict Paten @benedictpaten.bsky.social · 23/08/2024
Long reads for rare disease diagnosis; new preprint from lab+ Broad and DC Children's collaborators. TLDR: Long-read sequencing reveals a lot more of the genome but interpreting the added information requires removing short-read bias from our current knowledge + DBs www.medrxiv.org/content/10.1...
medrxiv.org
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
medRxiv - The Preprint Server for Health Sciences
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Benedict Paten @benedictpaten.bsky.social · 12/05/2024
New experimental version of Shasta genome assembler for higher accuracy nanopore simplex: github.com/paoloshasta/... (also see: docs.google.com/presentation...)
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Benedict Paten @benedictpaten.bsky.social · 18/12/2023
Fancy discussing pangenomes in Switzerland this summer? Join us for IGGSY 2024 in Ascona: iggsy.org/registration
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Benedict Paten @benedictpaten.bsky.social · 15/12/2023
How do we make a pangenome maximally relevant for the study of a new sample? www.biorxiv.org/content/10.1...
biorxiv.org
Personalized Pangenome References
bioRxiv - the preprint server for biology, operated by Cold Spring Harbor Laboratory, a research and educational institution
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