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smahtnetwrk.bsky.social @smahtnetwrk.bsky.social · 23h

We're headed to #ASHG2025 in Boston!

SMaHT members will be sharing their latest research and insights throughout the week; don't miss their presentations!

See who's presenting ⬇️

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smahtnetwrk.bsky.social @smahtnetwrk.bsky.social · 7d

Our working groups are the backbone of SMaHT, driving efforts in technology development, data generation, analysis, ethics, and outreach.

Meet the teams shaping the future of somatic mosaicism research:

www.smaht.org/working-groups

Working Groups

www.smaht.org

smahtnetwrk.bsky.social @smahtnetwrk.bsky.social · 12d

🫀 Genetic drivers of thoracic aortic aneurysm (TAA) uncovered that both germline and somatic mosaic variants play a role, with FLNA, NOTCH3, and FBN1 most frequently implicated.

Read the full study:
pmc.ncbi.nlm.nih.gov/articles/PMC...

Contributions of Germline and Somatic Mosaic Genetics to Thoracic Aortic Aneurysms in Nonsyndromic Individuals

Thoracic aortic aneurysm (TAA) is associated with significant morbidity and mortality. Although individuals with family histories of TAA often undergo clinical molecular genetic testing, adults with n...

pmc.ncbi.nlm.nih.gov

smahtnetwrk.bsky.social @smahtnetwrk.bsky.social · 13d

We’re bringing SMaHT science to #ASHG2025!

Check out the list of network presentations below.

We'll see you in Boston!

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smahtnetwrk.bsky.social @smahtnetwrk.bsky.social · 19d

Novel research shows the human germline is polyclonal, tracing back to the first zygotic division… and unlike somatic tissues, lineages are balanced 50:50 across generations.

Read more: pmc.ncbi.nlm.nih.gov/articles/PMC...

Transgenerational transmission of post-zygotic mutations suggests symmetric contribution of first two blastomeres to human germline

Little is known about the origin of germ cells in humans. We previously leveraged post-zygotic mutations to reconstruct zygote-rooted cell lineage ancestry trees in a phenotypically normal woman, term...

pmc.ncbi.nlm.nih.gov

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smahtnetwrk.bsky.social @smahtnetwrk.bsky.social · 21d

Every consortium has a story...

Ours began with a shared goal: to better understand somatic mosaicism and its impact on human health. Together, we’re building a foundation of knowledge and resources to support discoveries that can shape the future of medicine.

www.SMaHT.org

smahtnetwrk.bsky.social @smahtnetwrk.bsky.social · 27d

Emerging perspective in Cell: single-cell reference mapping could transform data integration across diseases, modalities, and species, replacing traditional clustering workflows.

Uncover the science behind it: www.cell.com/cell/fulltex...

The future of rapid and automated single-cell data analysis using reference mapping

Single-cell datasets are increasing in number and size. To leverage this rich resource, new workflows can reveal novel insights and discoveries. This perspective discusses the computational challenges...

www.cell.com

smahtnetwrk.bsky.social @smahtnetwrk.bsky.social · 28d

SMaHT is headed to #ASHG25!

Join us in Boston, October 14 - 18, where members of the network will present throughout the meeting, sharing insights on somatic mosaicism and the future of human genetics.

See you there!

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smahtnetwrk.bsky.social @smahtnetwrk.bsky.social · Sep 5

snapTotal-seq captures both spliced & unspliced RNA in single cells, advancing RNA velocity, revealing key regulators of the cell cycle & senescence, and highlighting post-transcriptional control.

Uncover the science behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...

Single-cell total-RNA profiling unveils regulatory hubs of transcription factors

Recent development of RNA velocity uses master equations to establish the kinetics of the life cycle of RNAs from unspliced RNA to spliced RNA (i.e., mature RNA) to degradation. To feed this kinetic a...

pmc.ncbi.nlm.nih.gov

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smahtnetwrk.bsky.social @smahtnetwrk.bsky.social · Sep 3

"The ultimate goal is to create more personalized medicine and a healthier society.”

In our Q&A series, SMaHT members dive into how studying somatic mosaicism can transform our understanding of human health and disease.

More on the SMaHT YouTube channel: 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.

www.youtube.com

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smahtnetwrk.bsky.social @smahtnetwrk.bsky.social · Aug 29

An innovative and fascinating sequencing tech detects DNA changes before they lock in as mutations... offering fresh insight into cancer, aging, & genetic disease.

Explore the science behind it:
www.biorxiv.org/content/10.1...

Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing

Mutations accumulate in the genome of every cell of the body throughout life, causing cancer and other genetic diseases[1][1]-[4][2]. Almost all of these mosaic mutations begin as nucleotide mismatche...

www.biorxiv.org

smahtnetwrk.bsky.social @smahtnetwrk.bsky.social · Aug 29

An innovative and fascinating sequencing tech detects DNA changes before they lock in as mutations... offering fresh insight into cancer, aging, & genetic disease.

Explore the science behind it:
www.biorxiv.org/content/10.1...

Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing

Mutations accumulate in the genome of every cell of the body throughout life, causing cancer and other genetic diseases[1][1]-[4][2]. Almost all of these mosaic mutations begin as nucleotide mismatche...

www.biorxiv.org

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smahtnetwrk.bsky.social @smahtnetwrk.bsky.social · Aug 27

🧬 The SMaHT Network is working to transform our understanding of how somatic mosaicism shapes human biology, development, and disease.

Learn more about the mission driving this research in our new video:
www.youtube.com/watch?v=8KX3...

NIH Common Fund's Somatic Mosaicism across Human Tissues (SMaHT) Network

YouTube video by DPCPSI

www.youtube.com

smahtnetwrk.bsky.social @smahtnetwrk.bsky.social · Aug 22

A recent sequencing method detects single-strand DNA events before they become permanent mutations, further advancing our understanding of cancer, aging & genetic disease.

Uncover the science behind it
www.biorxiv.org/content/10.1...

Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing

Mutations accumulate in the genome of every cell of the body throughout life, causing cancer and other genetic diseases[1][1]-[4][2]. Almost all of these mosaic mutations begin as nucleotide mismatche...

www.biorxiv.org

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smahtnetwrk.bsky.social @smahtnetwrk.bsky.social · Aug 20

"This somatic mutation exploration project offers us one more lens into what disease mechanisms might be driven by molecular factors.” - Richard Gibbs, PhD

Hear more perspectives from the SMaHT Network in our Q&A series!
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.

www.youtube.com

1

smahtnetwrk.bsky.social @smahtnetwrk.bsky.social · Aug 15

As we age, tiny DNA changes called mosaic structural variants (mSVs) build up in our blood stem cells....

A new study shows how they can disrupt cell function & may influence aging and disease risk.

Uncover the research behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...

Cell-type-specific consequences of mosaic structural variants in hematopoietic stem and progenitor cells

The functional impact and cellular context of mosaic structural variants (mSVs) in normal tissues is understudied. Utilizing Strand-seq, we sequenced 1,133 single-cell genomes from 19 human donors of ...

pmc.ncbi.nlm.nih.gov

smahtnetwrk.bsky.social @smahtnetwrk.bsky.social · Aug 13

To advance research and deepen our understanding of human health, SMAHT is building the first large-scale catalog of somatic mosaicism... DNA changes that happen as we grow and age.

learn more:
smaht.org

Somatic Mosaicism Across Human Tissues (SMaHT)

The Somatic Mosaicism across Human Tissues (SMaHT) Network aims to transform our understanding of how somatic mosaicism in human cells influences biology and disease.

smaht.org

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smahtnetwrk.bsky.social @smahtnetwrk.bsky.social · Aug 8

Nearly 1 in 4 adults with nonsyndromic thoracic aortic aneurysm (TAA) carried likely contributory genetic variants, pointing to a bigger genetic role in TAA than expected. Genetic testing could be the missing link to improving patient care.

pmc.ncbi.nlm.nih.gov/articles/PMC...

Contributions of Germline and Somatic Mosaic Genetics to Thoracic Aortic Aneurysms in Nonsyndromic Individuals

Thoracic aortic aneurysm (TAA) is associated with significant morbidity and mortality. Although individuals with family histories of TAA often undergo clinical molecular genetic testing, adults with n...

pmc.ncbi.nlm.nih.gov

1 1

smahtnetwrk.bsky.social @smahtnetwrk.bsky.social · Aug 6

“It’s changing how we think about aging and development…”

Shadi Z., PhD, shares how somatic mosaicism reveals patterns of tissue function and aging.

Watch more from the SMaHT Network Q&A: youtube.com/@smahtnetwork

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smahtnetwrk.bsky.social @smahtnetwrk.bsky.social · Aug 1

Research is revealing that the human germline is derived evenly from the first two cells after fertilization, unlike somatic tissues, which exhibit unbalanced lineage allocation.

Uncover the science behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...

Transgenerational transmission of post-zygotic mutations suggests symmetric contribution of first two blastomeres to human germline

Little is known about the origin of germ cells in humans. We previously leveraged post-zygotic mutations to reconstruct zygote-rooted cell lineage ancestry trees in a phenotypically normal woman, term...

pmc.ncbi.nlm.nih.gov

smahtnetwrk.bsky.social @smahtnetwrk.bsky.social · Jul 29

SMaHT is building the first large-scale catalog of somatic variation, DNA changes that occur as we grow and age.

These changes create mosaic patterns across tissues and may hold clues to understanding human health and disease.

Explore the project: smaht.org/overview/

Program Overview

smaht.org

smahtnetwrk.bsky.social @smahtnetwrk.bsky.social · Jul 21

The Coorens group at @emblebi.bsky.social is hiring a postdoc!

📍 Hinxton, UK
🗓️ Apply by July 25

embl.wd103.myworkdayjobs.com/EMBL/job/Hin...

Postdoctoral Fellow in Coorens Group

We are looking for a motivated and talented postdoctoral-level researcher with experience in genomic analyses to join the newly established Coorens group at EMBL-EBI. We study how normal cells in diff...

embl.wd103.myworkdayjobs.com

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smahtnetwrk.bsky.social @smahtnetwrk.bsky.social · Jul 18

The 2025 SMaHT Annual Meeting brought together researchers from across the network and the globe. 🌎

A wonderful few days of collaboration, conversation, and connection.

To hear directly from SMaHT members: www.youtube.com/@smahtnetwork

smahtnetwrk.bsky.social @smahtnetwrk.bsky.social · Jul 11

🎬 Volume 2 of the SMaHT Network Q&A is here!

In this edition, SMaHT members weigh in on major challenges in somatic mosaicism research, how the network is addressing them, and why this work matters for understanding human health.

Find the latest Q&A on our YouTube! - www.youtube.com/@SMaHTnetwork

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smahtnetwrk.bsky.social @smahtnetwrk.bsky.social · Jul 8

“Until we understand what is happening in healthy people, we can’t understand what is happening in disease.” – Flora Vaccarino

SMaHT is cataloging somatic mutations across the human body to better understand health, aging & disease.

Learn more
news.yale.edu/2025/07/02/c...

Change trackers: New consortium to catalog DNA mutations across human lifetime

In a multi-institution project, scientists will track genetic mutations occurring across the lifetime of 150 healthy individuals with the aim of understanding how they affect development, aging, and d...

news.yale.edu