Reposted by Benedict PatenAdam Phillippy @aphillippy.bsky.social · 06/08/2026For 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] 3202106
Reposted by Benedict PatenUC Santa Cruz Genomics Institute @ucscgenomics.bsky.social · 06/08/2026We’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/ 1147
Reposted by Benedict Patenjamelle @jamellebouie.net · 22/05/2026Abrego Garcia should apply for compensation from the weaponization fund 178136752207
Reposted by Benedict PatenAaron Stewart-Ahn @badideas.bsky.social · 25/01/2026A 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. 10054690018038
Reposted by Benedict PatenGwen C. Katz @gwenckatz.bsky.social · 18/10/2025I saw a tragically AI-generated version of this poster, so I have recreated a 100% human-made version for all your protest sign needs. 147202195540
Reposted by Benedict PatenXian 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 14222
Reposted by Benedict PatenAdam Phillippy @aphillippy.bsky.social · 22/09/2025Delighted 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.orgA complete diploid human genome benchmark for personalized genomicsHuman 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 ... 49757
Reposted by Benedict PatenMike 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. 419782
Reposted by Benedict PatenJouni Sirén @jltsiren.bsky.social · 15/05/2025A 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.orgLossless Pangenome Indexing Using Tag ArraysPangenome 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... 13615
Reposted by Benedict PatenHuman 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... 03728
Reposted by Benedict PatenAdam Phillippy @aphillippy.bsky.social · 12/05/2025The 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 08237
Reposted by Benedict PatenThe Serfs (youtube.com/theserfstv) @theserfstv.bsky.social · 18/04/2025An 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? 933176833725
Reposted by Benedict PatenHeng Li @lh3lh3.bsky.social · 18/04/2025Minimap2-2.29 released with the support of short RNA-seq read alignment. More explanation and results here: lh3.github.io/2025/04/18/s...lh3.github.ioShort RNA-seq read alignment with minimap2 0307
Reposted by Benedict PatenHeng Li @lh3lh3.bsky.social · 18/04/2025Preprint on hifiasm Nanopore-only assembly. Led by Haoyu Cheng: www.biorxiv.org/content/10.1...biorxiv.orgEfficient near telomere-to-telomere assembly of Nanopore Simplex readsTelomere-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... 513977
Reposted by Benedict PatenFloris 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. 🧬 🧵👇 195
Reposted by Benedict PatenAdam Phillippy @aphillippy.bsky.social · 09/04/2025A 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... 515577
Reposted by Benedict PatenNature @nature.com · 09/04/2025Nature research paper: Complete sequencing of ape genomes go.nature.com/3EfWwqkgo.nature.comComplete sequencing of ape genomes - NatureComplete 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. 15924
Reposted by Benedict PatenMolly Jong-Fast @mollyjongfast.bsky.social · 04/04/2025I kind of want to go 1821606489918
Reposted by Benedict PatenNikki 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.comThe 'Judicial Black Hole' of El Salvador's Prisons Is a Warning for AmericansDonald Trump is cementing a partnership with El Salvador President Nayib Bukele, whose assault on civil rights is being mirrored in the U.S. 381084458
Reposted by Benedict PatenNature Biotechnology @natbiotech.nature.com · 04/04/2025Severus detects somatic structural variation and complex rearrangements in cancer genomes using long-read sequencing - @mishakolmogorov.bsky.social go.nature.com/3R334eHgo.nature.comSeverus detects somatic structural variation and complex rearrangements in cancer genomes using long-read sequencing - Nature BiotechnologyComplex structural variations and rearrangements in cancer are identified using long-read sequencing. 1174
Reposted by Benedict PatenIan Boudreau @ianboudreau.com · 03/04/2025Everyone 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 9864659511511
Reposted by Benedict PatenSenator Mark Warner @markwarner.bsky.social · 28/03/2025We 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. 1585223886059
Reposted by Benedict PatenHeng Li @lh3lh3.bsky.social · 24/03/2025longcallD 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.comGitHub - yangao07/longcallD: A local-haplotagging-based small and structural variant callerA local-haplotagging-based small and structural variant caller - yangao07/longcallD 310449
Reposted by Benedict PatenXian Chang @xian-chang.bsky.social · 21/03/2025I'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 1101
Reposted by Benedict PatenSherry Pagoto, PhD @drsherrypagoto.bsky.social · 12/03/2025New 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.comNIH Grants Fueled $95 Billion In FY 2024 Economic Activity, Finds New ReportNational 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. 2320231138
Reposted by Benedict PatenKaren Miga @khmiga.bsky.social · 07/03/2025#standupforscience #slugforscience 0162
Benedict Paten @benedictpaten.bsky.social · 07/03/2025Standing up for science in the redwoods :) 0101
Reposted by Benedict PatenJohn Skiles Skinner @skiles.blue · 01/03/2025I 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.org18f.orgWe're not done yet | 18F 31689271430856
Reposted by Benedict PatenSenator Bernie Sanders @sanders.senate.gov · 28/02/2025Trump 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. 797237064305
Reposted by Benedict PatenBWJones @bwjones.bsky.social · 27/02/2025By @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.comInside the Collapse at NIHAdministration officials pressured NIH to avoid clear advice from the agency’s own lawyers to restart grant funding now. 11810488
Reposted by Benedict PatenColette Delawalla, PhD @cdelawalla.bsky.social · 10/02/2025Get 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 491529788
Reposted by Benedict PatenKatie Sandlin @kmsandlin.bsky.social · 14/02/2025Today, 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. 34266251200
Reposted by Benedict PatenMichael Baym @baym.lol · 14/02/2025It’s a good day to be a preventable disease 04214
Reposted by Benedict PatenEric Umansky @ericumansky.bsky.social · 10/02/2025Courts *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.orgThe 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... 15660972695
Reposted by Benedict PatenCarl T. Bergstrom @carlbergstrom.com · 08/02/20251. 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.govNOT-OD-25-068: Supplemental Guidance to the 2024 NIH Grants Policy Statement: Indirect Cost RatesNIH 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 25470004078
Reposted by Benedict PatenCarolyn Bertozzi @carolynbertozzi.bskyverified.social · 07/02/2025Decimating 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.comWhite House budget proposal could shatter the National Science Foundation“This kind of cut would kill American science and boost China.”… 814763
Reposted by Benedict PatenUC Santa Cruz Genomics Institute @ucscgenomics.bsky.social · 24/01/2025Researchers 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 0157
Reposted by Benedict PatenEd Hawkins @edhawkins.org · 10/01/2025The 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. 12622343
Reposted by Benedict PatenRebekah Jones @georebekah.bsky.social · 08/01/2025ABC, 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.govWildfire climate connectionClimate 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 ... 12193967714704
Reposted by Benedict PatenUC Santa Cruz Genomics Institute @ucscgenomics.bsky.social · 16/12/2024Calling 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 0148
Reposted by Benedict PatenBen Langmead @benlangmead.bsky.social · 11/12/2024Very 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.comMovi: A fast and cache-efficient full-text pangenome indexBiocomputational method; Classification of bioinformatical subject; Genomic analysis 14417
Reposted by Benedict PatenUC Santa Cruz Genomics Institute @ucscgenomics.bsky.social · 21/11/2024New @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... 144
Reposted by Benedict PatenAdam 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... 13114
Benedict Paten @benedictpaten.bsky.social · 12/09/2024Note, also similar nice results and ideas from @benlangmead.bsky.social's lab: www.biorxiv.org/content/10.1...biorxiv.orgMinimizing Reference Bias with an Impute-First ApproachbioRxiv - the preprint server for biology, operated by Cold Spring Harbor Laboratory, a research and educational institution 093
Benedict Paten @benedictpaten.bsky.social · 12/09/2024Out 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.bePersonalized pangenome referencesNature 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... 0128
Benedict Paten @benedictpaten.bsky.social · 23/08/2024Long 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.orgAdvancing long-read nanopore genome assembly and accurate variant calling for rare disease detectionmedRxiv - The Preprint Server for Health Sciences 0102
Benedict Paten @benedictpaten.bsky.social · 12/05/2024New experimental version of Shasta genome assembler for higher accuracy nanopore simplex: github.com/paoloshasta/... (also see: docs.google.com/presentation...) 050
Benedict Paten @benedictpaten.bsky.social · 18/12/2023Fancy discussing pangenomes in Switzerland this summer? Join us for IGGSY 2024 in Ascona: iggsy.org/registration 010
Benedict Paten @benedictpaten.bsky.social · 15/12/2023How do we make a pangenome maximally relevant for the study of a new sample? www.biorxiv.org/content/10.1...biorxiv.orgPersonalized Pangenome ReferencesbioRxiv - the preprint server for biology, operated by Cold Spring Harbor Laboratory, a research and educational institution 0103