mspielmann.bsky.social

Using tech called DNA Typewriter, which writes genetic stamps into a cell’s genome every time it divides, the team was able to read 1.58 million cell nuclei to reconstruct the whole lineage. www.science.org/doi/10.1126/...

A map of normal development gives researchers a baseline for understanding birth defects, cancer, and more, revealing when and where cells go off course. The full tree is public via an interactive browser called NextCell: nextcell.seattlehub.org

New in Cell: Zachary Smith's lab with Jonathan Weissman (@hhmi-science.bsky.social / Whitehead Institute), presents a comprehensive cell fate map of the developing mouse embryo. The findings could help advance our understanding of development and disease. Read more: www.molgen.mpg.de/news-2026-ma...

📣 Interested in non-coding disease-causing variants? Check out our review "Mechanisms underlying disease-causing variants in promoters and enhancers". Interesting mechanisms, challenges and future perspectives. Great to work with @wbickmor.bsky.social, Kun and Ryan! www.nature.com/articles/s41...

Featured in The Scientist: Dr. Alexander Hoischen discusses how long-read sequencing on the Revio system is helping end the rare disease diagnostic odyssey by filling the gaps left by short reads. Read the interview: bit.ly/4i3LKFl #PacBio #Revio #RareDisease #HiFiSequencing

What regulates the urge to sleep? William Joo and colleagues identified brain regions that reflect how long mice have been awake. Strikingly, inhibiting one of these regions reduces sleep by 70%, without the major behavioral deficits associated with sleep deprivation. www.nature.com/articles/s41...

Not everything was done in cancer cell lines. Our original observation: www.nature.com/articles/nat... (note that we did not call them SEs back then, but the TF clusters are very similar) was in mESCs. Observations in GAM from the Pombo group were also on mESCs.

ENCODE GRAMMAR is now on the UCSC Genome Browser! 🧬 Base-resolution deep learning predictions, sequence contribution scores & motif instances (BPNet, ChromBPNet, ProCapNet, ReporterNet) across thousands of ENCODE experiments. Explore on hg38: genome.ucsc.edu/s/Lo...

Preprint: biorxiv.org/content/10.6... This is the product of many years of effort, and particularly amazing summer teamwork by Qi Yu, Haedong Kim, @seidels.bsky.social @cxqiu.bsky.social and many others from Shendure Lab & SeaHub (a @alleninstitute.org @biohub.org @uwmedicine.bsky.social colab) 2/n

Thrilled to post thread re: new single-cell lineage of mouse embryo reconstructed w/ DNA Typewriter. One animal, zygote to late organogenesis (E13.5). Tree has 1,340,794 transcriptionally profiled, annotated tips (cells), 1,142,588 dated internal nodes, rooted at zygote 1/n

🧬 New studies show how SVs downstream of FOXG1 can disrupt its regulation and contribute to a FOXG1-like NDD. Together, they reveal distinct regulatory loci and provide new insight into the locus’s 3D organisation. 👉https://buff.ly/UVhWtWk 👉https://buff.ly/Nvidv1E

1st genome sequenced (Sanger 1977), 1st genome synthesised (Venter 2003), 1st genome + proteome fully mutated (Huijin Xiangua 2026!) @crg.eu @sangerinstitute.bsky.social Complete Mutagenesis of the Genome and Proteome of ΦX174 www.biorxiv.org/content/10.6...

We are shocked by the attack on Berlin’s CSD. Our thoughts are with the victims, their loved ones, and everyone affected. We are proud of our queer community and stand firmly in solidarity with them. Together, we are shaping #mdcBerlin into a place rooted in openness, respect, and mutual support.

📣 Neue Podcast-Folge 📣 Prof. Dr. Julia Polansky erläutert die Grundlagen des Immunsystems und welches Potential Immuntherapien im Hinblick auf personalisierte Behandlungen haben. 🎧 Hier gehts zur Folge: codedeslebens.podigee.io/56-immunther... #Genetik #Forschung #Podcast #Wissenschaft #GHGA

The latest episode of the Variants and Us (VUS) podcast explores how MAVEs are made with two scientists (@kmatreyek.bsky.social and @gregfindlay.bsky.social) that have transformed the generation of phenotypic data for thousands of variants simultaneously. Listen now: tinyurl.com/3kv774ee

Dive into mouse development with the new atlas from 2-cell stage (E₁.₅) to birth (E₁₉.₀), featuring 37 time points, 2M cells, and 4500 genes per cell. Discover novel insights with unprecedented temporal… PMID:42225831, Nat Cell Biol 2026, @NatureCellBio https://doi.org/10.1038/s41556-026-01971-3

🧬New Perspective explores near-perfect genome sequencing (NPGS): convergence of long-read sequencing, diploid assembly, pangenome references and AI-driven interpretation. A step toward a one-test paradigm that may reshape genetic diagnostics. Read more: www.nature.com/articles/s41...

Gene expression insights from 77 sections of 13 human embryos (Carnegie stages 12-23) using Stereo-seq and snRNA-seq pave the way for understanding development. PMID:42203883, Nature 2026, @Nature https://doi.org/10.1038/s41586-026-10545-0 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

With the far-right Alternative for Germany leading in polls for national and state elections, institutions are facing up to proposed restrictions on academic freedom go.nature.com/4an43R5

The results of the Advanced Grants 2025 are here! Out of 3,329 applicants, 319 leading researchers have been awarded an ERC Advanced Grant. Congratulations to all! 🎉 Curious to know more ? 👉 buff.ly/uiU9x5K #ERCAdG #FrontierResearch

@ajhgnews.bsky.social latest article from @ahoischen.bsky.social, @bartvds.bsky.social, & co shows that long-read HiFi genome sequencing w/ Paraphase enables comprehensive analysis of challenging paralogous regions, detecting all clinically relevant variant types: https://bit.ly/4v0TdZq #ASHG

🏆 Congratulations to Tuuli Lappalainen, ESHG Award Lecturer 2026! In her Award Lecture, Professor Lappalainen will discuss the next steps in interpreting these effects and the tools that will help researchers uncover the molecular mechanisms underlying genetic variation. #Genetics #eshg2026

Guillaume Canaud, Mendel Lecturer at #eshg2026! Professor Canaud is internationally recognised for his pioneering research into the molecular mechanisms of rare vascular disorders and for translating genetic discoveries into targeted therapies that are transforming patient care #Genetics #Genomics

Brilliant ESHG Award Lecture by @tuuliel.bsky.social @eshg.bsky.social #eshg2026 highlighting the importance of building communal resources #genomics #openscience 👏👏👏

Halftime at the #eshg2026 #hybridconference! Make sure to visit our exhibitors in Hall B.

Next up, Adam Ameur shares that long-read WGS efforts are ongoing in Sweden for population genomics and clinical diagnostics. They bridge these projects by using a joint analysis framework and shared variant databases. #ESHG2026 #PacBio #ESHG

Coming up today at 10:30 in Hall C: Don't miss Session C15.1! #PacBio Scientist Xiao Chen will showcase how HiFi sequencing resolves the complex D4Z4 repeat responsible for facioscapulohumeral muscular dystrophy. See you soon! #ESHG2026

Using the great Paraphase tool built by Xiao Chen and @meberle.bsky.social @pacbio.bsky.social - we showcase that clinically relevant variants in paralogous genes (ie gene/pseudogene pairs) can now be identified with ease.

Additional evidence for the fact: Long read genomes are the future of rare disease diagnostics and research (and more evidence following shortly)…

Congrats to all co-authors from out HiFi-Solves EMEA consortium! www.pacb.com/hifi-solves/ This study was driven particularly by the great @bartvds.bsky.social; with important contributions from Hanno Jörn Bolz Johannes Zschocke Malte Spielmann and their teams.

The #eshg2026 starts tomorrow morning. You can still register until June 16 for in-person participation. Enjoy all sessions live in Gothenburg, online from wherever you are or on-demand after the conference, whenever it suits you. 2026.eshg.org/registration/ #genetics #genomics

In 832 patients with rare genetic disease, a conclusive diagnosis was made for 160 patients (19.2%) with long-read genome sequencing and for 137 patients (16.5%) with standard-of-care testing. Full study results: https://nej.md/4e03ejh #ESHG2026

Make sure to watch the Sunday Daily Highlights by SPC and ESHG-Y Committee Member Juliana Miranda Cerqueira and join us again tomorrow, at 8:30 CEST youtu.be/rDNkJOsWp0M

👋🧬 Welcoming address #eshg2026 @ahoischen.bsky.social @eshg.bsky.social 3,171 abstracts from 95 countries: 🇬🇧🇮🇹🇹🇷🇩🇪🇪🇸 et al 👥6,048 participants: 🙋‍♂️🙋‍♀️4,812 in person 💻 🖥️1,248 online ⛅️ Fascinating word cloud from all presentation titles 🇸🇪 It’s good to be in Gothenburg! #RareDisease #Genomics

Great work showing the importance of long read sequencing for rare disease!

There are six different poster sessions this year, so be sure to plan your poster viewings accordingly. Alternatively, registered participants can explore all posters every day at the e-poster terminals and in the e-poster gallery on the online conference platform until November 30, 2026.

Need help deciding what to attend on Saturday at #eshg2026? Poster Jury Chair Lot Snijders Blok has some tips for you: youtu.be/zGkIoA9enCA Don’t forget that onsite registration just opened in Hall D at Svenska Mässan. Avoid queuing on Saturday morning and pick up your badge today.

It was great meeting with the talented folks who’ll be working at the Obama Presidential Center. We're excited to welcome everybody here soon!

🌍 Join from anywhere in the world with our online-only registration options 💻 Live-streamed sessions, on-demand access for 6 months 💡 reduced fees for students, trainees, participants from lower-income economies, etc. Register now: 2026.eshg.org/registration/

The 2026 Metagenomics SMRT Grant is now open! 🧬 Submit a 100 word proposal explaining how highly accurate long read sequencing will advance your microbiome research for a chance to win free HiFi sequencing at SeqCenter. Apply here: bit.ly/4uAtTJn #PacBio #HiFisequencing #Metagenomics

Thrilled and honored to receive the Ernst Schering Prize 2026!🎉 Also deeply grateful to have been elected to the German Academy of Sciences. Both are recognitions of our whole group – I’m immensely thankful to all team members, past and present!❤️ tinyurl.com/hjrejv3p tinyurl.com/muw7j6mr

We are over the moon! 🎈 Dr. Marieke Oudelaar joins the MPI-IE as a new #MaxPlanck Director, heading the newly established Department of Genome Biology She studies how the 3D folding of DNA controls gene expression – more details below ⬇️ Welcome to #Freiburg, @mariekeoudelaar.bsky.social!

Today, it was Lisa's turn to defend her PhD thesis and she did an absolutely fantastic job 😍 Especially going into full structure of the RNA Pol2 catalytic core and explaining the mutants. It was an outstanding discussion! I am really proud of her performance today 🥹

Take-home: reanalysis after ~1.8 years gives a modest but clinically relevant diagnostic gain. Scalable workflows could help unresolved rare disease cases benefit from evolving genomic knowledge.

Concordance analysis showed that Talos captured most manually reported P/LP findings: 80.0% concordance in singleton cases and 75.2% in trio cases, rising to 82.8% when considering proband-only findings. VUS concordance was lower, as expected for a P/LP-focused workflow.

After a mean reanalysis interval of 660 days, manual review added 3 P/LP cases and 2 newly classified VUS. Talos recovered all 3 new P/LP findings and 1 of 2 VUS, while reducing review to ~3 candidate variants per case.

Why this matters: genome interpretation evolves over time, but fully manual reanalysis is difficult to scale in routine diagnostics. Automated prioritisation may help make periodic reanalysis more feasible.

Excited to share our latest preprint on a head-to-head comparison of automated versus manual genome reanalysis in a real world setting. Great work by @danielkaschta.bsky.social and the entire team!

🚨 New preprint led by super⭐ PhD student Anthony (@amcguigan.bsky.social) 🥳 He studied homozygous deletions genome-wide using genome sequencing data in the amazing @genomicsengland.bsky.social NGRL See Anthony's 🧵for a summary 👇

Complementing our recent #Review 'Charting single-cell lineages with synthetic and natural barcodes' by @alejofraticelli.bsky.social & Victoria Parreno (rdcu.be/e50gy), Kun Wang, Xionglei He & Zheng Hu review 'Computational approaches for multimodal lineage tracing': go.nature.com/4nDGGbk