SMaHT Network

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…

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-groups/

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 model. Read the preprint: biorxiv.org/content/10.110…

IGGSy 2026 is coming! 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. biorxiv.org/content/10.110…

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. biorxiv.org/content/10.110…

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: biorxiv.org/content/10.110…

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/PMC12…

New year, new chapter! In 2026, we're excited to continue our commitment to advancing somatic mosaicism research through collaboration, innovation, and shared discovery. We greatly look forward to highlighting the progress and impact of the SMaHT network in the year ahead!

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/artic…

Highlighting the new MosaicSim preprint, introducing a workflow for simulating realistic mosaic variants and creating robust benchmarking datasets for MV detection. Learn more: biorxiv.org/content/10.648…

Comprehensive benchmarking of somatic mutation detection by the SMaHT Network biorxiv.org/content/10.110… #biorxiv_genomic

Recently spotlighted in @Nature, 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: nature.com/articles/d4158…