Deep sequencing reveals rare, low-frequency somatic mutations in ALS/FTD genes may contribute to sporadic neurodegeneration. Uncover the science behind it: www.biorxiv.org/content/10.1...

New research supported in part by SMaHT finds cancer-associated mutations in brain immune cells may contribute to Alzheimer’s disease, pointing to new directions for diagnostics and treatment. Learn more in the Boston Children's Hospital press release: www.childrenshospital.org/newsroom/med...

SMaHT researchers will be presenting upcoming posters at conferences across the U.S. & Europe, highlighting work across ELSI, TPC, and website teams. Stay tuned for where to find us and learn more about these efforts!

The 2026 Human Cell Atlas General Meeting happens June 16 - 18 in Boston, MA.  Join the Human Cell Atlas community as it marks 10 years and looks ahead.  Virtual option available.  Register: events.humancellatlas.org/2026HCAGM/

Uncover how single-cell approaches reveal somatic mutation variation across cell types, exposures, and lineages, further advancing cell–type–aware mutation profiling. Read the preprint: www.biorxiv.org/content/10.1...

Our SMaHT Associate Members play a key role in advancing the network, contributing to somatic variant catalogs, developing new sequencing tools, and shaping data resources that deepen our understanding of human biology.  Learn more: smaht.org/associate-me...

The NIH Common Fund is seeking community input to shape the future of somatic mosaicism research. Share perspectives on priorities, technologies, and data needs. Responses due by May 30: go.nih.gov/SMaHT-RFI

Why build a comprehensive catalog of somatic variants? In this Q&A, Elizabeth Chun explains how creating a high-quality, searchable reference across tissues can advance our understanding of human health and disease. ▶️: youtu.be/6N1FHMqozHo

Looking for the SMaHT Network across social media?  Visit our Linktree to find all SMaHT platforms in one place and stay up to date on the latest research, tools, and consortium updates.  linktr.ee/smahtnetwork

New Preprint: TumorLens introduces a unified long-read framework that detects SNVs, indels, SVs, CNVs, LoH, and CpG methylation in a single assay, enabling more comprehensive tumor profiling and insights into mechanisms like immune escape. Read more: www.medrxiv.org/content/10.6...

Why is studying somatic variation so challenging? In this Q&A, Carrie Cibulskis, BS, explains the “needle in a haystack” problem… finding rare mutations in a tiny fraction of cells while separating true variants from sequencing errors. 🎬 youtu.be/ozZo_G2MkJc

Researchers across the SMaHT Network compare six duplex sequencing technologies for detecting low-frequency somatic mutations. The study highlights differences in sensitivity, cost, and genomic coverage while showing strong agreement in mutation rate estimates. doi.org/10.64898/202...

Preprint: A comprehensive view of somatic mosaicism by single-cell DNA analysis. Single-cell DNA sequencing reveals diverse somatic mutations and chromosomal changes across lung and colon cells, offering deeper insight into mosaicism across tissues. www.biorxiv.org/content/10.1...

In Volume 2 of our Q&A series, SMaHT Network members discuss why studying somatic variation is so challenging and how the network is working to overcome those barriers to better understand human health and disease. Tune in: youtu.be/ljZncMubN_w?...

The SMaHT Reference Assembly Working Group is developing best practices for using T2T assemblies and genome graphs to advance somatic variant analysis.  Learn more about our working groups: smaht.org/working-grou...

scNanoSeq enables accurate detection of somatic mutations in single tumor cells, profiling 842 cells from 21 breast cancers. Results reveal distinct evolutionary patterns and a proposed reprogramming–critical mutation co-timing (RCMC) model.  Read the preprint: www.biorxiv.org/content/10.1...

IGGSy 2026 is coming! July 5 - 9, join researchers from around the world to explore genome graphs, pangenomics, and metagenomics, including a dedicated Human Pangenome Project session with keynotes from speakers of varied specializations. Registration open now! iggsy.org

A recent preprint uses single-cell whole-genome sequencing to reveal increased somatic DNA damage in neurons from ALS, FTD, and Alzheimer’s disease, suggesting a shared mutational process in neurodegeneration. Uncover the research behind it: www.biorxiv.org/content/10.1...

Finding somatic mutations is like spotting one changing leaf in a forest...rare, subtle, and incredibly informative. In this Q&A, Thomas Bell, PhD, explains why that challenge is exactly what makes SMaHT’s work so exciting. 🎥: youtu.be/ydg6YYceoTM

A recent preprint introduces a technology-agnostic benchmarking resource for detecting somatic variants across variant types, tissues, and allele fractions... advancing somatic variant analysis in research and clinical settings.   www.biorxiv.org/content/10.1...

Stay connected with the SMaHT Network! Our Linktree brings together all our social channels, resources, and updates in one place: linktr.ee/smahtnetwork

Single-cell genome sequencing reveals elevated somatic mutations in neurons from ALS, FTD, and Alzheimer’s disease, suggesting shared DNA damage processes may contribute to neurodegeneration. Uncover the research behind it: www.biorxiv.org/content/10.1...

Not all cells live the same biological story… Learn how cellular variation influences somatic mosaicism in this Q&A with Alexej Abyzov, PhD, and other SMaHT Network members. ▶️ youtu.be/ljZncMubN_w

Single-cell long-read sequencing uncovers previously hidden somatic transposon activity in the human brain, revealing dynamic genomic changes missed by other methods. Uncover the science behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...

Low-level genetic changes accumulate in our cells over time, creating somatic mosaicism. A Clinical Chemistry article highlights how the SMaHT Network is advancing tools, data, and resources to better understand how somatic variants shape human health. academic.oup.com/clinchem/art...

Sharing the new MosaicSim preprint! A tool that simulates realistic mosaic variants to help evaluate and optimize variant calling methods.

Recently spotlighted in @nature.com, a new BioRxiv preprint showcases a single-cell sequencing approach that reveals somatic mutations, chromosomal changes, and lineage insights often missed in bulk data. Uncover the science behind it: www.nature.com/articles/d41586-025-03768-0

This November, we’re grateful for the collaboration and commitment that drive SMaHT’s progress. Thank you to all who help advance our understanding of human health and disease!

Stay in the loop with the SMaHT network! Follow all our socials to keep up with the latest updates on our website through our Linktree: linktr.ee/smahtnetwork

“Our results suggest that CTE develops through some process in addition to head trauma.” - Chris Walsh A new @scinews.bsky.social study finds CTE has distinctive somatic mutations resembling Alzheimer’s and signs of 100+ years of excess genomic aging. More at: www.bumc.bu.edu/camed/news-e...

As we age, tiny DNA changes called mosaic structural variants (mSVs) build up in our blood stem cells. A new study shows how they can disrupt cell function & may influence aging and disease risk. Uncover the science behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...

A lot is happening in the world of SMaHT... From new research to exciting collaborations, we’re uncovering how our cells tell the story of who we are! Learn more at www.smaht.org.

Wishing everyone a spook-tacular Halloween! 👻 Whether you’re celebrating or just enjoying a well-earned weekend, we hope it’s a wickedly wonderful one!

Recent research uncovers unique genomic variation patterns linked to autism spectrum disorders, offering new insight into how genes tied to brain development and neuron function may interact in ASD. Uncover the science behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...

We're headed to #ASHG2025 in Boston! SMaHT members will be sharing their latest research and insights throughout the week; don't miss their presentations! See who's presenting ⬇️

Our working groups are the backbone of SMaHT, driving efforts in technology development, data generation, analysis, ethics, and outreach. Meet the teams shaping the future of somatic mosaicism research: www.smaht.org/working-groups

🫀 Genetic drivers of thoracic aortic aneurysm (TAA) uncovered that both germline and somatic mosaic variants play a role, with FLNA, NOTCH3, and FBN1 most frequently implicated. Read the full study: pmc.ncbi.nlm.nih.gov/articles/PMC...

We’re bringing SMaHT science to #ASHG2025! Check out the list of network presentations below. We'll see you in Boston!

Novel research shows the human germline is polyclonal, tracing back to the first zygotic division… and unlike somatic tissues, lineages are balanced 50:50 across generations. Read more: pmc.ncbi.nlm.nih.gov/articles/PMC...

Every consortium has a story... Ours began with a shared goal: to better understand somatic mosaicism and its impact on human health. Together, we’re building a foundation of knowledge and resources to support discoveries that can shape the future of medicine. www.SMaHT.org

Emerging perspective in Cell: single-cell reference mapping could transform data integration across diseases, modalities, and species, replacing traditional clustering workflows. Uncover the science behind it: www.cell.com/cell/fulltex...

SMaHT is headed to #ASHG25! Join us in Boston, October 14 - 18, where members of the network will present throughout the meeting, sharing insights on somatic mosaicism and the future of human genetics. See you there!

snapTotal-seq captures both spliced & unspliced RNA in single cells, advancing RNA velocity, revealing key regulators of the cell cycle & senescence, and highlighting post-transcriptional control. Uncover the science behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...

"The ultimate goal is to create more personalized medicine and a healthier society.” In our Q&A series, SMaHT members dive into how studying somatic mosaicism can transform our understanding of human health and disease. More on the SMaHT YouTube channel: www.youtube.com/@smahtnetwork

An innovative and fascinating sequencing tech detects DNA changes before they lock in as mutations... offering fresh insight into cancer, aging, & genetic disease. Explore the science behind it: www.biorxiv.org/content/10.1...

An innovative and fascinating sequencing tech detects DNA changes before they lock in as mutations... offering fresh insight into cancer, aging, & genetic disease. Explore the science behind it: www.biorxiv.org/content/10.1...

🧬 The SMaHT Network is working to transform our understanding of how somatic mosaicism shapes human biology, development, and disease. Learn more about the mission driving this research in our new video: www.youtube.com/watch?v=8KX3...

A recent sequencing method detects single-strand DNA events before they become permanent mutations, further advancing our understanding of cancer, aging & genetic disease. Uncover the science behind it www.biorxiv.org/content/10.1...

"This somatic mutation exploration project offers us one more lens into what disease mechanisms might be driven by molecular factors.” - Richard Gibbs, PhD Hear more perspectives from the SMaHT Network in our Q&A series! www.youtube.com/@SMaHTnetwork

As we age, tiny DNA changes called mosaic structural variants (mSVs) build up in our blood stem cells.... A new study shows how they can disrupt cell function & may influence aging and disease risk. Uncover the research behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...