@smahtnetwrk.bsky.social
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 science behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...
Uncover the science 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 increasing age, and discovered the heterogeneous ...
pmc.ncbi.nlm.nih.gov
November 13, 2025 at 7:22 PM
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 science behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...
Uncover the science behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...
A lot is happening in the world of SMaHT...
From new research to exciting collaborations, we’re uncovering how our cells tell the story of who we are!
Learn more at www.smaht.org.
From new research to exciting collaborations, we’re uncovering how our cells tell the story of who we are!
Learn more at www.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.
www.smaht.org
November 5, 2025 at 8:14 PM
A lot is happening in the world of SMaHT...
From new research to exciting collaborations, we’re uncovering how our cells tell the story of who we are!
Learn more at www.smaht.org.
From new research to exciting collaborations, we’re uncovering how our cells tell the story of who we are!
Learn more at www.smaht.org.
Wishing everyone a spook-tacular Halloween! 👻
Whether you’re celebrating or just enjoying a well-earned weekend, we hope it’s a wickedly wonderful one!
Whether you’re celebrating or just enjoying a well-earned weekend, we hope it’s a wickedly wonderful one!
October 31, 2025 at 4:15 PM
Wishing everyone a spook-tacular Halloween! 👻
Whether you’re celebrating or just enjoying a well-earned weekend, we hope it’s a wickedly wonderful one!
Whether you’re celebrating or just enjoying a well-earned weekend, we hope it’s a wickedly wonderful one!
Recent research uncovers unique genomic variation patterns linked to autism spectrum disorders, offering new insight into how genes tied to brain development and neuron function may interact in ASD.
Uncover the science behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...
Uncover the science behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...
Novel correlative analysis identifies multiple genomic variations impacting ASD with macrocephaly
Autism spectrum disorders (ASD) display both phenotypic and genetic heterogeneity, impeding the understanding of ASD and development of effective means of diagnosis and potential treatments. Genes affected by genomic variations for ASD converge in ...
pmc.ncbi.nlm.nih.gov
October 29, 2025 at 7:29 PM
Recent research uncovers unique genomic variation patterns linked to autism spectrum disorders, offering new insight into how genes tied to brain development and neuron function may interact in ASD.
Uncover the science behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...
Uncover the science behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...
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 ⬇️
SMaHT members will be sharing their latest research and insights throughout the week; don't miss their presentations!
See who's presenting ⬇️
October 8, 2025 at 6:40 PM
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 ⬇️
SMaHT members will be sharing their latest research and insights throughout the week; don't miss their presentations!
See who's presenting ⬇️
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
Meet the teams shaping the future of somatic mosaicism research:
www.smaht.org/working-groups
Working Groups
www.smaht.org
October 2, 2025 at 4:18 PM
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
Meet the teams shaping the future of somatic mosaicism research:
www.smaht.org/working-groups
🫀 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...
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
September 26, 2025 at 8:23 PM
🫀 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...
Read the full study:
pmc.ncbi.nlm.nih.gov/articles/PMC...
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...
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
September 19, 2025 at 6:38 PM
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...
Read more: pmc.ncbi.nlm.nih.gov/articles/PMC...
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
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
September 17, 2025 at 6:49 PM
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
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
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...
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
September 12, 2025 at 4:50 PM
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...
Uncover the science behind it: www.cell.com/cell/fulltex...
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!
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!
September 11, 2025 at 2:18 PM
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!
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!
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...
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
September 5, 2025 at 5:57 PM
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...
Uncover the science behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...
"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
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
September 3, 2025 at 9:43 PM
"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
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
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...
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
August 29, 2025 at 4:42 PM
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...
Explore the science behind it:
www.biorxiv.org/content/10.1...
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...
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
August 29, 2025 at 4:41 PM
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...
Explore the science behind it:
www.biorxiv.org/content/10.1...
🧬 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...
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
August 27, 2025 at 6:04 PM
🧬 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...
Learn more about the mission driving this research in our new video:
www.youtube.com/watch?v=8KX3...
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...
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
August 22, 2025 at 5:44 PM
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...
Uncover the science behind it
www.biorxiv.org/content/10.1...
"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
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
August 20, 2025 at 4:26 PM
"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
Hear more perspectives from the SMaHT Network in our Q&A series!
www.youtube.com/@SMaHTnetwork
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...
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
August 15, 2025 at 7:01 PM
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...
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...
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
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
August 13, 2025 at 8:28 PM
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
learn more:
smaht.org
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...
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
August 8, 2025 at 8:44 PM
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...
pmc.ncbi.nlm.nih.gov/articles/PMC...
“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
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
August 6, 2025 at 3:53 PM
“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
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
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...
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
August 1, 2025 at 5:24 PM
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...
Uncover the science behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...
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/
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
July 29, 2025 at 9:01 PM
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/
These changes create mosaic patterns across tissues and may hold clues to understanding human health and disease.
Explore the project: smaht.org/overview/