@handle.invalid
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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...
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https://www.biorxiv.org/content/10.1101/2023.11.30.569436v2
5 days ago
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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...
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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
https://www.childrenshospital.org/newsroom/media-archive/alzheimers-disease-cancer-mutations-accrue-brains-immune-cells
11 days ago
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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!
13 days ago
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The 2026 Human Cell Atlas General Meeting happens June 16 - 18 in Boston, MA. Join the Human Cell Atlas community as it marks 10 years and looks ahead. Virtual option available. Register:
events.humancellatlas.org/2026HCAGM/
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2026 Human Cell Atlas General Meeting
The 2026 HCA General Meeting will take place in person in Boston, USA and virtually. Topics will include creating a cross-tissue 3D reference Atlas with spatial resolution that is geographically and g...
https://events.humancellatlas.org/2026HCAGM/
18 days ago
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Uncover how single-cell approaches reveal somatic mutation variation across cell types, exposures, and lineages, further advancing cell–type–aware mutation profiling. Read the preprint:
www.biorxiv.org/content/10.1...
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https://www.biorxiv.org/content/10.1101/2025.10.28.685157v1
21 days ago
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Our SMaHT Associate Members play a key role in advancing the network, contributing to somatic variant catalogs, developing new sequencing tools, and shaping data resources that deepen our understanding of human biology. Learn more:
smaht.org/associate-me...
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Associate Members
https://smaht.org/associate-members/
27 days ago
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The NIH Common Fund is seeking community input to shape the future of somatic mosaicism research. Share perspectives on priorities, technologies, and data needs. Responses due by May 30:
go.nih.gov/SMaHT-RFI
about 1 month ago
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Why build a comprehensive catalog of somatic variants? In this Q&A, Elizabeth Chun explains how creating a high-quality, searchable reference across tissues can advance our understanding of human health and disease. ▶️:
youtu.be/6N1FHMqozHo
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Why is it important to build a catalog of somatic variants across tissues & individuals?
YouTube video by SMaHT Network
https://youtu.be/6N1FHMqozHo
about 1 month ago
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Looking for the SMaHT Network across social media? Visit our Linktree to find all SMaHT platforms in one place and stay up to date on the latest research, tools, and consortium updates.Â
linktr.ee/smahtnetwork
about 1 month ago
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New Preprint: TumorLens introduces a unified long-read framework that detects SNVs, indels, SVs, CNVs, LoH, and CpG methylation in a single assay, enabling more comprehensive tumor profiling and insights into mechanisms like immune escape. Read more:
www.medrxiv.org/content/10.6...
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Comprehensive detection of genetic and epigenetic alterations in cancer using long reads with TumorLens
Accurately resolving the full spectrum of somatic alterations remains a major barrier in cancer genomics. Current short-read sequencing methods often prioritize SNVs and copy-number changes while over...
https://www.medrxiv.org/content/10.64898/2026.03.18.26348569v1
about 2 months ago
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Why is studying somatic variation so challenging? In this Q&A, Carrie Cibulskis, BS, explains the “needle in a haystack” problem… finding rare mutations in a tiny fraction of cells while separating true variants from sequencing errors. 🎬
youtu.be/ozZo_G2MkJc
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Why is studying somatic mosaicism technically challenging?
YouTube video by SMaHT Network
https://youtu.be/ozZo_G2MkJc
about 2 months ago
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Researchers across the SMaHT Network compare six duplex sequencing technologies for detecting low-frequency somatic mutations. The study highlights differences in sensitivity, cost, and genomic coverage while showing strong agreement in mutation rate estimates.
doi.org/10.64898/202...
about 2 months ago
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Preprint: A comprehensive view of somatic mosaicism by single-cell DNA analysis. Single-cell DNA sequencing reveals diverse somatic mutations and chromosomal changes across lung and colon cells, offering deeper insight into mosaicism across tissues.
www.biorxiv.org/content/10.1...
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https://www.biorxiv.org/content/10.1101/2025.10.31.685648v1
about 2 months ago
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In Volume 2 of our Q&A series, SMaHT Network members discuss why studying somatic variation is so challenging and how the network is working to overcome those barriers to better understand human health and disease. Tune in:
youtu.be/ljZncMubN_w?...
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NIH Common Fund's SMaHT Network Q&A - Vol. 2
YouTube video by SMaHT Network
https://youtu.be/ljZncMubN_w?si=FFoDxkyw7zlgLhp3
2 months ago
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The SMaHT Reference Assembly Working Group is developing best practices for using T2T assemblies and genome graphs to advance somatic variant analysis. Learn more about our working groups:
smaht.org/working-grou...
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Working Groups
https://smaht.org/working-groups/
2 months ago
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scNanoSeq enables accurate detection of somatic mutations in single tumor cells, profiling 842 cells from 21 breast cancers. Results reveal distinct evolutionary patterns and a proposed reprogramming–critical mutation co-timing (RCMC) model. Read the preprint:
www.biorxiv.org/content/10.1...
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https://www.biorxiv.org/content/10.1101/2023.10.09.561356v1.full.pdf
2 months ago
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IGGSy 2026 is coming! July 5 - 9, join researchers from around the world to explore genome graphs, pangenomics, and metagenomics, including a dedicated Human Pangenome Project session with keynotes from speakers of varied specializations. Registration open now!
iggsy.org
3 months ago
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A recent preprint uses single-cell whole-genome sequencing to reveal increased somatic DNA damage in neurons from ALS, FTD, and Alzheimer’s disease, suggesting a shared mutational process in neurodegeneration. Uncover the research behind it:
www.biorxiv.org/content/10.1...
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https://www.biorxiv.org/content/10.1101/2025.03.03.641186v1
3 months ago
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Finding somatic mutations is like spotting one changing leaf in a forest...rare, subtle, and incredibly informative. In this Q&A, Thomas Bell, PhD, explains why that challenge is exactly what makes SMaHT’s work so exciting. 🎥:
youtu.be/ydg6YYceoTM
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What makes the study of somatic variation technically or conceptually difficult?
YouTube video by SMaHT Network
https://youtu.be/ydg6YYceoTM
3 months ago
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A recent preprint introduces a technology-agnostic benchmarking resource for detecting somatic variants across variant types, tissues, and allele fractions... advancing somatic variant analysis in research and clinical settings. Â
www.biorxiv.org/content/10.1...
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https://www.biorxiv.org/content/10.1101/2025.09.29.679336v2.full.pdf
3 months ago
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Stay connected with the SMaHT Network! Our Linktree brings together all our social channels, resources, and updates in one place:
linktr.ee/smahtnetwork
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SMaHT Network | Instagram, Facebook | Linktree
Aiming to transform our understanding of somatic mosaicism.
https://linktr.ee/smahtnetwork
3 months ago
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Single-cell genome sequencing reveals elevated somatic mutations in neurons from ALS, FTD, and Alzheimer’s disease, suggesting shared DNA damage processes may contribute to neurodegeneration. Uncover the research behind it:
www.biorxiv.org/content/10.1...
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https://www.biorxiv.org/content/10.1101/2025.03.03.641186v3.full.pdf
3 months ago
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Not all cells live the same biological story… Learn how cellular variation influences somatic mosaicism in this Q&A with Alexej Abyzov, PhD, and other SMaHT Network members. ▶️
youtu.be/ljZncMubN_w
3 months ago
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Single-cell long-read sequencing uncovers previously hidden somatic transposon activity in the human brain, revealing dynamic genomic changes missed by other methods. Uncover the science behind it:
pmc.ncbi.nlm.nih.gov/articles/PMC...
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Single cell long read whole genome sequencing reveals somatic transposon activity in human brain
The advent of single cell DNA sequencing revealed astonishing dynamics of genomic variability, but failed at characterizing smaller to mid size variants that on the germline level have a profound impact. In this work we discover previously ...
https://pmc.ncbi.nlm.nih.gov/articles/PMC12635067/
4 months ago
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Low-level genetic changes accumulate in our cells over time, creating somatic mosaicism. A Clinical Chemistry article highlights how the SMaHT Network is advancing tools, data, and resources to better understand how somatic variants shape human health.
academic.oup.com/clinchem/art...
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The Somatic Mosaicism across Human Tissues (SMaHT) Network, a SMART Investment?
While genetics is often considered static, low-level changes occur in an individual’s nucleotide sequence throughout a lifetime. Germline or constitutional
https://academic.oup.com/clinchem/article/70/5/780/7660958
5 months ago
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Sharing the new MosaicSim preprint! A tool that simulates realistic mosaic variants to help evaluate and optimize variant calling methods.
add a skeleton here at some point
5 months ago
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Recently spotlighted in
@nature.com
, a new BioRxiv preprint showcases a single-cell sequencing approach that reveals somatic mutations, chromosomal changes, and lineage insights often missed in bulk data. Uncover the science behind it:
www.nature.com/articles/d41586-025-03768-0
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We are all mosaics: vast genetic diversity found between cells in a single person
Technical advances allow researchers to trace the genetic changes that occur over time.
https://www.nature.com/articles/d41586-025-03768-0
5 months ago
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This November, we’re grateful for the collaboration and commitment that drive SMaHT’s progress. Thank you to all who help advance our understanding of human health and disease!
5 months ago
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Stay in the loop with the SMaHT network! Follow all our socials to keep up with the latest updates on our website through our Linktree:
linktr.ee/smahtnetwork
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SMaHT Network | Instagram, Facebook | Linktree
Aiming to transform our understanding of somatic mosaicism.
https://linktr.ee/smahtnetwork
5 months ago
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“Our results suggest that CTE develops through some process in addition to head trauma.” - Chris Walsh A new
@scinews.bsky.social
study finds CTE has distinctive somatic mutations resembling Alzheimer’s and signs of 100+ years of excess genomic aging. More at:
www.bumc.bu.edu/camed/news-e...
6 months ago
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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...
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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 ...
https://pmc.ncbi.nlm.nih.gov/articles/PMC11176070/
6 months ago
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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
.
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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.
http://www.smaht.org
6 months ago
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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!
6 months ago
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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...
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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 ...
https://pmc.ncbi.nlm.nih.gov/articles/PMC10162433
6 months ago
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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 ⬇️
7 months ago
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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
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Working Groups
http://www.smaht.org/working-groups
7 months ago
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đź«€ 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...
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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...
https://pmc.ncbi.nlm.nih.gov/articles/PMC11292778/
7 months ago
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We’re bringing SMaHT science to
#ASHG2025
! Check out the list of network presentations below. We'll see you in Boston!
7 months ago
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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...
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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...
https://pmc.ncbi.nlm.nih.gov/articles/PMC11213018
8 months ago
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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
8 months ago
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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...
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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...
https://www.cell.com/cell/fulltext/S0092-8674(24)00301-5
8 months ago
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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!
8 months ago
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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...
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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...
https://pmc.ncbi.nlm.nih.gov/articles/PMC11251146/
8 months ago
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"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
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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.
https://www.youtube.com/@smahtnetwork
8 months ago
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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...
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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...
https://www.biorxiv.org/content/10.1101/2023.02.19.526140v1.full
8 months ago
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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...
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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...
https://www.biorxiv.org/content/10.1101/2023.02.19.526140v1.full
8 months ago
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🧬 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...
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NIH Common Fund's Somatic Mosaicism across Human Tissues (SMaHT) Network
YouTube video by DPCPSI
https://www.youtube.com/watch?v=8KX3lkMB5nU
8 months ago
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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...
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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...
https://www.biorxiv.org/content/10.1101/2023.02.19.526140v1.full
9 months ago
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"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
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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.
https://www.youtube.com/@SMaHTnetwork
9 months ago
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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...
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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 ...
https://pmc.ncbi.nlm.nih.gov/articles/PMC11176070/
9 months ago
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