Chromosome-specific telomere lengths measured in >2,500 All of Us participants reveal arm‑level variation, strong individual differences, and age‑related shortening. #LongReadSequencing enables refined disease‑association analyses. #NatureCommunications #Genetics
Read more below 🔗

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype - Nature Communications MAU2’s role in Cornelia de Lange syndrome was unclear. Here, the authors identify pathogenic MAU2 variants that disrupt NIPBL–MAU2 function, define MAU2‑specific episignatures, and show variable CdLS‑related phenotypes, supported by a Mau2 knockout mouse model.

MAU2 variants define a distinct CdLS subtype 🧬 In 18 individuals, 15 heterozygous variants disrupt MAU2–NIPBL function, show MAU2‑specific episignatures, and are validated in a Mau2 knockout mouse model 🐁 Read more:

Condensin accelerates long‑range intra‑chromosomal interactions in budding yeast. Using CICI to measure encounter times across loci, the study provides a dynamic view of chromatin motion beyond static 3C snapshots. #NatureCommunications #Chromatin #YeastResearch

Using the linear references from the pangenome to discover missing autism variants - Nature Communications Large-effect variants in autism remain elusive. Here, the authors use long-read sequencing to assemble phased genomes for 189 individuals, identifying pathogenic variants in TBL1XR1, MECP2, and SYNGAP1, plus nine candidate structural variants missed by short-read methods.

Long‑read, phased genomes from 189 individuals reveal autism‑associated pathogenic variants, including complex SVs missed by short reads. Highlights variants in TBL1XR1, MECP2 & SYNGAP1. @uwgenome.bsky.social @humanpangenome.bsky.social #LongReadSequencing #StructuralVariants #AutismResearch

Looking forward to hearing your talk later!

Thank you! Hope all is well in Cell Press world

Would appreciate if you could add me too thanks!

This is VERY cool! 🧬🧪

Web of Science index plans to end eLife’s journal impact factor The controversial metric will be removed because the journal’s new publishing model doesn’t meet its quality criteria

I am surprised at this actually. Elife will stop getting an IF. www.science.org/content/arti...

The 450 Movement I do peer review and I want you to pay me four hundred and fifty dollars. I’ll even say please.

The ancient Q of paying for #PeerReview resurfaced on 💙☁️, most recently with the antitrust lawsuit against publishers, & so I thought is a good moment to re-vamp my (X)🧵 on the 450 Movement. Before you start: read the post from James Heathers #AcademicSky 1/
jamesheathers.medium.com/the-450-move...

Intimately familiar with this issue - making sure the emails are current, including ECRs/postdocs or those with recently accepted papers at your journal among invitees, and doing personal follow ups highlighting why their expertise is a good fit can often help with tricky papers!

📢SAVE THE DATE
The 4th Molecular Biosystems Conference is set!

Plan to join us in southern Chile for insightful discussions on gene regulation & functional genomics #mbiosys25 🧬🔄

Stay tuned for more details!

🗓️Sep 29-Oct 3, 2025
📍Puerto Varas, Chile
🌐http://molbiosystems.com

In case it's useful!

We are all always happy to discuss your work, our journals, peer review, careers in publishing, and more!

If you are a full-time editor not in the list, let me know!

go.bsky.app/Lj5TDXn

Can you add me please too :)

Thanks @eugenevalkov.bsky.social !!

Poster for EMBL conference 19-22 Nov 2024

I’ll be at the #EMBL ‘Quantitative Biology to Molecular Mechanisms’ meeting in Heidelberg next week wearing my editor hat 👩‍💻🧪 Let’s chat if you’ll be there! #QuantBio #MolBio

I gather this is where all the cool scientists hang out these days 👩‍🔬🧪