SMaHT Network

The SMaHT Network aims to transform our understanding of how somatic mosaicism in human cells influences biology & disease.

[SMaHT Network @SMaHTnetwork]

A study of aging and Alzheimer’s disease brains found higher levels of somatic mutations, particularly in microglia.

The findings suggest these mutations may drive the expansion of inflammatory microglial cells and contribute to Alzheimer’s disease.

https://t.co/YJKslzjJcS

[SMaHT Network @SMaHTnetwork]

A new toolkit, Himito, uses long-read sequencing to analyze mitochondrial DNA, including genetic variants and DNA modifications.

Applied to All of Us data, it revealed mitochondrial diversity and age-related patterns.

Uncover the science behind it:
https://t.co/LUAy7lxms8

[SMaHT Network @SMaHTnetwork]

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.

https://t.co/dVaPeAoRVG

[SMaHT Network @SMaHTnetwork]

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: https://t.co/4eG2dju4lj

[SMaHT Network @SMaHTnetwork]

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 ⬇️

[Gilad Evrony @giladevrony]

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?

[SMaHT Network @SMaHTnetwork]

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.

https://t.co/0eXMsFCVLK

[SMaHT Network @SMaHTnetwork]

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.

https://t.co/g021DwrY6e

[SMaHT Network @SMaHTnetwork]

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!

https://t.co/4uvNPF2QXF

[SMaHT Network @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:
https://t.co/b8ku66XkIa

[SMaHT Network @SMaHTnetwork]

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.

https://t.co/TPCV9p8nxL

[SMaHT Network @SMaHTnetwork]

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:
https://t.co/9f4W4yK8Gx

[SMaHT Network @SMaHTnetwork]

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:
https://t.co/4ZInMEamIl,

[SMaHT Network @SMaHTnetwork]

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.

https://t.co/jQu8pwh3P5

[SMaHT Network @SMaHTnetwork]

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.

[SMaHT Network @SMaHTnetwork]

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: https://t.co/ykKGuaX8ju

[SMaHT Network @SMaHTnetwork]

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.

https://t.co/ED1w9JsnUN

[SMaHT Network @SMaHTnetwork]

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:
https://t.co/fSqrOClNzC

[SMaHT Network @SMaHTnetwork]

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.

https://t.co/qBE4vniYNt

[SMaHT Network @SMaHTnetwork]

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.

https://t.co/tQdToojJei

[SMaHT Network @SMaHTnetwork]

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.

https://t.co/n6ngbJnEOO