SMaHT Network

Analysis of nearly 12,000 normal tissue samples reveals ongoing mutagenic processes across healthy human tissues, offering new insight into baseline somatic mutation patterns and disease-associated mutagenesis. Read more: pubmed.ncbi.nlm.nih.gov/41756945/

The SMaHT Genome Assembly Analysis Focus Group is working to develop high-quality genomic assemblies to improve detection and interpretation of somatic variation. Learn more about SMaHT focus and working groups: smaht.org/working-groups/

Blog spotlight: Researchers identified rare somatic mutations in brain and spinal cord tissue that may contribute to sporadic Amyotrophic lateral sclerosis and Frontotemporal dementia. Read more: mgriblog.org/science-insigh…

A recent preprint explores how donor-specific assemblies improve the detection of somatic structural variants. Using a personalized assembly identified 1.8× more validated variants than standard references, especially in repeat-rich regions. biorxiv.org/content/10.648…

How can studying somatic variation improve human health? Christopher Grochowski, PhD, shares how SMaHT research is uncovering genetic differences across tissues to better understand disease and advance personalized medicine. Watch here: youtu.be/Rve7hZgR0Uk

Deep sequencing reveals rare, low-frequency somatic mutations in ALS/FTD genes may contribute to sporadic neurodegeneration. Uncover the science behind it: biorxiv.org/content/10.110…

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: childrenshospital.org/newsroom/media…

What are the biggest gaps in somatic mosaicism research? What tools or data are missing? Share your ideas with NIH and help guide future investments: 🔗 go.nih.gov/SMaHT-RFI 📅 Submit by May 30, 2026

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: biorxiv.org/content/10.110…

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-memb…

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: medrxiv.org/content/10.648…

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 SMaHT compare 6 duplex sequencing technologies for detecting low-frequency somatic mutations. The study highlights variation in sensitivity, cost, and genomic coverage while showing strong agreement in mutation rate estimates. doi.org/10.64898/2025.…

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. biorxiv.org/content/10.110…

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?si…