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The SMaHT Network aims to transform our understanding of how somatic mosaicism in human cells influences biology & disease.
St. Louis
Joined May 2023
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Detecting mosaic variants at low levels can be incredibly complex.
This study describes two ddPCR approaches helping researchers and clinicians accurately measure these variants, supporting interpretation of their potential health impacts.
pubmed.ncbi.nlm.nih.gov/3877…
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-groups/
Taking a closer look at how somatic mutations accumulate in different types of human cerebellar neurons reveals surprising similarities and distinct mutation patterns.
Research highlights how cell type and transcriptional activity may shape neuronal mutagenesis.
Learn more ⬇️
Two types of neurons in the cerebellum, Purkinje neurons (PN) and granule neurons (GN), have extreme differences in size and physiology.
Marta @GronskaPeski in our lab wondered: do they also acquire mutations differently with age?
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.
protocols.io/view/optimized-…
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.
biorxiv.org/content/10.64898…
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!
youtube.com/@SMaHTnetwork
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/podcas…
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 detection of mosaic SVs in non-cancer tissues.
biorxiv.org/content/10.1101/…
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:
protocols.io/view/compduplex…
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/webin…,
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.
biorxiv.org/content/10.1101/…
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/…
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.
youtube.com/watch?v=WHwyweJH…
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/
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.
biorxiv.org/content/10.1101/…
How can low-frequency mosaic variants be detected with greater sensitivity and speed?
This preprint presents the DRAGEN mosaic caller, a hardware-accelerated approach for identifying low-VAF mosaic variants from bulk sequencing across diverse tissues.
medrxiv.org/content/10.64898…
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 SMaHT.
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: cell.com/cell/fulltext/S0092…
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/blo…
