Catch us over on #Bluesky 👋🏽.

🎬 Volume 2 of the SMaHT Network Q&A is here!. In this edition, SMaHT members weigh in on major challenges in somatic mosaicism research, how the network is addressing them, and why this work matters for understanding human health.

“Until we understand what is happening in healthy people, we can’t understand what is happening in disease.” – Flora Vaccarino. SMaHT is cataloging somatic mutations across the human body to better understand health, aging & disease. Learn more.

🧬 The SMaHT marker paper is now live in @Nature . This landmark study characterizes somatic variation across 19 tissue types from 150 nondiseased donors, laying the groundwork for future discoveries in health, aging, and disease. Read the full paper:

Coming soon in @Nature . The SMaHT marker paper officially goes live on July 3rd. From 19 tissue types and 150 donors, this work lays the foundation for understanding somatic variation across the human body and its role in health, aging, and disease. Stay tuned!

Recent research suggests somatic mutations may play a role in schizophrenia. Deep whole-genome sequencing of brain tissue found more mosaic mutations in open chromatin and TF binding sites in schizophrenia cases, potentially impacting gene expression.

🎉 Congratulations to our Early Career Researcher Pilot and Feasibility Awardees!. 👏 Yilei Fu – @sedlazeck.👏 Cheuk-Ting Law – @KathleenHBurns.👏 Yang "Young" Zhang – @Zonglab.👏 Elliot Swanson – @stergachislab.👏 Andy Russell – @insitubiology.👏 Hang Su – @broadinstitute

TRGT enables accurate genotyping of tandem repeats (TRs) from PacBio HiFi data, detecting expansions, methylation, and mosaicism across 937,122 TRs. Learn more:

🚨 Calling all structural variant wranglers!. Join us August 27–29 at Baylor College of Medicine with Rice University for the 7th Pan-Structural Variation Hackathon in the Cloud. 🗓️ Save the date: August 27–29 .📍 Baylor College of Medicine + Cloud .🔗

How heritable or plastic are cell states in somatic evolution? 🧬. PATH offers a quantitative framework to measure both, shedding light on cell state transitions in cancer and beyond. Explore the research:

This #WorldEnvironmentDay, we’re highlighting how SMaHT is advancing science in ways that support human health and sustainability. By deepening our understanding of somatic mosaicism, SMaHT helps drive more precise diagnoses and supports a more efficient healthcare system. 🌱🌍

Sniffles2 improves SV detection across long-read platforms. 🧬. It's faster, more accurate, and even detects mosaic SVs in bulk data—a major boost for somatic variation research. Uncover the science behind it:

SMaHT is transforming our understanding of how somatic mosaicism in human cells influences biology and disease, one initiative at a time. From groundbreaking studies to new technologies, we’re building the foundation for a deeper, more accurate picture of human health.

🎉 Big news from our sister consortium!. Release 2 is now live. Find the latest insights in the HPRC data explorer!👇🏼.

Keeping you in the loop! ➰.Our Linktree includes all SMaHT websites and social media accounts for easy and consistent access. Find all our social media accounts in one place:.

Critical clues are being revealed about the impact of somatic mutations on human health and disease. A SMaHT study demonstrates how personalized assemblies and single-cell sequencing can sharpen the detection of somatic mutations in the human brain 🧠.

What is somatic variation?. SMaHT is building the first large-scale, systematic catalog of somatic variation to better understand how these DNA changes shape human health and disease.

A major step forward in clinical genetics!. The 1KGP Oxford Nanopore Consortium shares long-read sequencing data from 100 individuals across global populations, identifying 24K+ structural variants per genome and uncovering insights missed by short reads.

The SMaHT team embodies the powerful mission of advancing our understanding of somatic mosaicism. From tissue collection to technology development and data analysis, each team plays a vital role in ensuring the network’s work is thoughtful, collaborative, and impactful.

A recent study uses long-read chromatin fiber sequencing (Fiber-seq) to map regulatory elements in the maize genome, uncovering how transposable elements influence gene regulation and epigenetics. Uncover how this work builds on McClintock’s legacy:.