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The Mobile Element (MEI) Analysis Focus Group within the SMaHT Network is dedicated to identifying and characterizing somatic mobile element insertions across diverse human tissues. Learn more about this and other SMaHT working groups: smaht.org/working-grou...
Working Groups
smaht.org
Using high-fidelity duplex sequencing, researchers profiled human cerebellar Purkinje and granule neurons across the lifespan, revealing both shared and distinct mutation patterns and modest effects in cerebellar ataxias. Uncover the research behind it: www.cell.com/neuron/fullt...
Divergent somatic mutation patterns among human cerebellar neuron types
Grońska-Pęski et al. developed an approach to profile somatic mutations at high fidelity in two major cerebellar neuron types with markedly different physiologies: Purkinje and granule neurons. Profil...
cell.com
Explore a step-by-step NanoSeq library preparation protocol using mung bean nuclease for whole-genome duplex sequencing. Optimized across 15+ human tissues, the method enables improved genome coverage for high-sensitivity somatic mutation detection. www.protocols.io/view/optimiz...
Optimized Mung Bean Nuclease Nanoseq Library Preparation Protocol for Whole Genome Sequencing
Optimized Mung Bean Nuclease Nanoseq Library Preparation Protocol for Whole Genome Sequencing. Duplex. Read full protocol, steps, and materials on protocols.io
protocols.io
NanoSeq-MBN enables near-genome-wide, high-fidelity detection of ultra-rare somatic variants. This preprint expands the GIAB benchmark resource with a somatic layer, supporting rare-variant discovery, calibration and clinical assay validation. www.biorxiv.org/content/10.6...
Expanding the Genome in a Bottle Truth Set: Detection and Validation of Novel Low-frequency Variants Using High-accuracy NanoSeq
Highlights Somatic mutations record tissue molecular history and inform risk, prognosis, and therapy, yet their variant allele fractions often fall below the reliable detection limit of conventional...
biorxiv.org
As we put the finishing touches on Vol. 3 of the SMaHT Network Q&A series, catch up on what SMaHT members have shared so far. Hear perspectives on advances in somatic mosaicism research and why this work matters! www.youtube.com/@SMaHTnetwork
SMaHT Network
The Somatic Mosaicism across Human Tissues (SMaHT) Network aims to transform our understanding of how somatic mosaicism in human cells influences biology and disease.
youtube.com
What is a “linear genome”? In the HPRC context, a linear genome organizes contiguous or scaffolded genome sequences in a traditional, row-based format. Explore this and more genomics definitions: humanpangenome.org/definitions/
SMaHT member Chris Walsh, MD, PhD, joins The Early Perspective to discuss how somatic mutations shape the developing brain and what they can reveal about neurodevelopmental and neurodegenerative diseases. Tune in: podcasts.apple.com/us/podcast/t...
The DNA Typing Errors in Your Brain
Podcast Episode · The Early Perspective · August 10 · 58m
podcasts.apple.com
How well can we detect somatic structural variants at ultra-low allele fractions? This preprint benchmarks 12 SV detection pipelines across sequencing platforms, providing best practices and data to support robust detection of mosaic SVs in non-cancer tissues. www.biorxiv.org/content/10.1...
Comprehensive benchmarking of somatic structural variant detection at ultra-low allele fractions
Postzygotic mosaicism gives rise to somatic structural variants (SVs) at ultra-low variant allele fractions (VAFs), which pose challenges for detection due to the high-coverage sequencing required and...
biorxiv.org
Accurate detection of somatic mutations is essential for studying mosaicism. This protocol describes CompDuplex-seq, a duplex sequencing method that combines genome-wide coverage with high accuracy using standard Illumina sequencing workflows. Learn more: www.protocols.io/view/compdup...
CompDuplex: Accurate detection of somatic mutations by duplex-seq with comprehensive genome coverage
CompDuplex: Accurate detection of somatic mutations by duplex-seq with comprehensive genome coverage. . Read full protocol, steps, and materials on protocols.io
protocols.io
Join the Human Reference Atlas webinar on Friday, July 31, from 1–2 pm ET to learn about new methods for analyzing endothelial cell environments across 12 organs and designing antibody panels for future spatial omics studies. Register: broadinstitute.zoom.us/webinar/regi...
Welcome! You are invited to join a webinar: CFDE Public Webinar Series. After registering, you will receive a confirmation email about joining the webinar.
Welcome! You are invited to join a webinar: CFDE Public Webinar Series. After registering, you will receive a confirmation email about joining the webinar.
broadinstitute.zoom.us
Single-cell DNA sequencing can reveal how somatic mutations accumulate across tissues over time. This preprint presents a validated framework for studying somatic mosaicism from development through aging. www.biorxiv.org/content/10.1...
A comprehensive view of somatic mosaicism by single-cell DNA analysis
Single-cell DNA sequencing offers a powerful means of studying somatic mosaicism but requires careful analysis to mitigate DNA amplification-related artifacts. We performed primary template-directed a...
biorxiv.org
ASHG 2026 commences this October, with SMaHT members presenting posters, talks, and oral presentations throughout the meeting. Here’s a preview of the research the SMaHT Network will be sharing with the genetics and genomics community.
Introducing D&D-seq, a single-cell technology for mapping DNA-protein interactions with improved sensitivity. Compatible with multi-omics workflows, the method offers new opportunities to study gene regulation in health and disease. Learn more: news.weill.cornell.edu/news/2026/06...
A Breakthrough Single-Cell Method for Mapping DNA-Protein Interactions
A new technology allows scientists to map, in single cells, the DNA binding sites of transcription factors and other regulatory proteins that control gene activity, according to a study led by investi...
news.weill.cornell.edu
Tune in as SMaHT member Chris Walsh, MD, PhD, is featured on The Genetics Podcast. Dr. Walsh discusses somatic mosaicism in the brain, its role in diseases ranging from epilepsy to Alzheimer’s, and how these discoveries could inform future therapies. www.youtube.com/watch?v=WHwy...
EP 247: Why neurons accumulate mutations like clockwork with Christopher Walsh of Boston Children's
YouTube video by Sano Genetics
youtube.com
The SMaHT Network is building the first large-scale catalog of somatic mosaicism across human tissues to better understand how DNA changes acquired throughout life influence human health and disease. Visit our website to learn more about the initiative: smaht.org/overview/
Program Overview
smaht.org
How do somatic mutations accumulate in healthy tissues? This preprint analyzes nearly 12,000 normal samples across 25 tissues, uncovering ongoing mutagenic processes and providing a framework for studying somatic mutations in normal human cells. www.biorxiv.org/content/10.1...
Motif-Centered Analyses Reveal Universal and Tissue-Specific Mutagenic Mechanisms Operating in the Human Body
Somatic mutations are inevitable in human genomes and can lead to tumorigenesis, yet baseline mutagenesis in non-cancerous normal cells remain poorly understood. Here, we analyzed the mutation profile...
biorxiv.org
Explore the SMaHT Data Portal, a platform for searching, visualizing, and downloading somatic mosaic variants from normal human tissues. Discover connections across datasets, assays, sequencing platforms, and molecular features generated by the SMaHT Network. data.smaht.org
SMaHT Data Portal
data.smaht.org
Introducing D&D-seq, a single-cell method for profiling DNA–protein interactions. The method enables detection of weak or transient transcription factor binding and integrates analyses of gene regulation. Uncover the science behind it: www.cell.com/cell/fulltex...
Single-cell mapping of regulatory DNA-protein interactions
D&D-seq, a single-cell immune-tethering strategy, captures weak and transient DNA-protein interactions to enable integrated, genome-wide analysis of transcription factor binding across chromatin state...
cell.com
Registration is now open for the August 2026 Hackathon, a hybrid event focused on collaborative approaches to genomics and bioinformatics research! Learn more about the event and register: fritzsedlazeck.github.io/blog/2026/ha...
What is the biggest gap in somatic variation research today? In this Q&A, Alexej Abyzov, PhD, discusses the importance of studying somatic mutations at the single-cell level and how SMaHT is helping advance this area of research. ▶️ youtu.be/2S2d8lxy4sk
What is the biggest gap in somatic variation research & how is SMaHT uniquely positioned to fill it?
YouTube video by SMaHT Network
youtu.be
Join the 10th Annual Single Cell Genomics Day on June 12! Explore the latest advances in single-cell and spatial genomics, featuring talks from leading researchers across the field. Free livestream, no registration required: www.satijalab.org/scgd
Researchers studied nearly 500,000 genomes, revealing that mosaic chromosomal alterations accumulate in predictable patterns with age, offering new insight into clonal expansion and blood cancer risk. Uncover the science behind it: www.nature.com/articles/s41...
Patterns and drivers of 43,617 mosaic chromosomal alterations in blood - Nature Genetics
High-resolution analyses of blood-derived whole-genome sequence data from UK Biobank detect new mosaic chromosomal alterations and identify rare protein-coding variants associated with clonal expansio...
nature.com
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/
Motif-Centered Analyses Reveal Universal and Tissue-Specific Mutagenic Mechanisms Operating in the Human Body - PubMed
Somatic mutations are inevitable in human genomes and can lead to tumorigenesis, yet baseline mutagenesis in non-cancerous normal cells remain poorly understood. Here, we analyzed the mutation profile...
pubmed.ncbi.nlm.nih.gov
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-grou...
Working Groups
smaht.org
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-insi...
The Potential Role of Acquired Genetic Mutations in Sporadic ALS and FTD
Learn how sporadic cases of ALS/FTD may be influenced by somatic mutations, according to new research findings.
mgriblog.org
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. www.biorxiv.org/content/10.6...
biorxiv.org
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
How can studying somatic mosaicism benefit our understanding of human health?
YouTube video by SMaHT Network
youtu.be
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...
biorxiv.org
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...
In Alzheimer’s disease, cancer mutations accrue in brain’s immune cells | Boston Children's Hospital
Same drivers of disease within microglia indicate that certain cancer treatments may be effective for Alzheimer’sBOSTON, MA [April 21, 2026] — As the body ages
childrenshospital.org
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!
