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

In vivo reconstruction of the cell lineage history of a developing mouse with DNA Typewriter, from zygote to late organogenesis

The complete cell lineage of C. elegans, mapped over four decades ago, was tractable because the animal is small, transparent, and lineage invariant. Most animals are none of these, having orders of m...

biorxiv.org

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...

Complete Mutagenesis of the Genome and Proteome of ΦX174

The bacteriophage ΦX174 was the first genome to be sequenced and the first to be chemically synthesised. Here we present a complete map of the consequences of changing every nucleotide in the ΦX174 ge...

biorxiv.org

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

Inside the toolbox: how MAVEs are made

Variants and Us (VUS) Podcast · Episode

tinyurl.com

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

Developmental chronology of mouse embryo from 2-cell stage through birth | Nature Cell Biology

Current single-cell atlases of mouse embryos are limited in temporal resolution and cellular or sequencing depth coverage. Here we report the mouse developmental Cell and Lineage Atlas (mdCLA), which covers 37 time points across the entire embryonic development from the 2-cell stage (E1.5) to birth (E19.0), with two million cells and a median of 4,500 genes detected per cell. The temporal coverage and data quality of mdCLA surpass the existing mouse embryonic atlases, enabling the identification of organ-specific cell type and gene expression. Using mdCLA, we uncovered divergent gene expression profiles between early and late-stage metanephric progenitor populations, marked by the upregulation of epithelial differentiation and immune response pathways in the late-stage population. Moreover, by analysing the newly generated cell types over time, we revealed an epithelium-specific accelerated differentiation process that occurs after E14.5. The transcription factor upregulated during lat

doi.org

🧬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 🧪

Spatiotemporal transcriptome atlas of human embryos after gastrulation | Nature

The comprehensive spatiotemporal atlas of gene expression during early human embryonic development is critical for insights into embryogenesis1, organogenesis2 and disease origins3,4. Here, leveraging Stereo-seq technology, we generated spatial transcriptomic profiles across 77 sagittal sections of 13 whole-human embryos ranging from Carnegie stage 12 to 23, integrated with single-nucleus RNA sequencing to elucidate gene expression patterns within defined cellular contexts, revealing the cellular heterogeneity that drives organ-specific differentiation. Our study has established a regulatory profile for the development of 50 organs and 198 substructures, and identified potential tissue-identity regulators. Of note, it uncovered previously uncharacterized gene functions in cardiac and brain development. The atlas not only substantiates and refines the current understanding of human organ development but also highlights key organs susceptible to genetic disorders. Furthermore, we charact

doi.org

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

Scientists fight back against far-right plans to restrict academic freedom in Germany

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

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

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes

Long-read HiFi genome sequencing combined with Paraphase enables comprehensive detection of all clinically relevant variant types in paralogous genes. It resolves “dark” regions while enabling haploty...

bit.ly

🏆 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 American Journal of Human Genetics@ajhgnews.bsky.social · 2mo ago

🧬New from @ahoischen.bsky.social & co! 📄HiFi sequencing accurately identifies clinically relevant variants in paralogous genes

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!

NEJM.org@nejm.org · 2mo ago

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

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!