Evidence map›Paper›PMID 40281095›Full record

ReviewNature reviews. Genetics2025

Advances in single-cell DNA sequencing enable insights into human somatic mosaicism.

Diane D Shao, Andrea J Kriz, Daniel A Snellings, Zinan Zhou, Yifan Zhao, Liz Enyenihi, Christopher Walsh

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

15 citing papers in PubMed.

  1. Review
  2. Review
  3. Short-Read Sequencing Benchmarking with Donor-Specific Assemblies.bioRxiv : the preprint server for biology · 2026
    Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Morphogen Gradients as Drivers of Mosaicism During Early Human Development.BioEssays : news and reviews in molecular, cellular and developmental biology · 2026
    Review
  11. Review
  12. Review
  13. What sets the mutation rate of a cell type in an animal species?bioRxiv : the preprint server for biology · 2025
    Article
  14. Article
  15. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Diane D ShaoDepartment of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. Diane.Shao@childrens.harvard.edu.
Andrea J KrizDivision of Genetics and Genomics, Department of Paediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Daniel A SnellingsDivision of Genetics and Genomics, Department of Paediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Zinan ZhouDivision of Genetics and Genomics, Department of Paediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Yifan ZhaoDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0003-4829-1428
Liz EnyenihiDivision of Genetics and Genomics, Department of Paediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Christopher WalshDepartment of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. Christopher.Walsh@childrens.harvard.edu.ORCID http://orcid.org/0000-0002-0156-2238

Funding

Medical Scientist Training ProgramT32GM144273 · NIGMS · HARVARD MEDICAL SCHOOL · PI David Shumway Jones, Jacqueline A. Lees · 2022 to 2026
$14.7M
NIGMS NIH HHS T32 GM144273
6 · The paper itself

Abstract

DNA sequencing from bulk or clonal human tissues has shown that genetic mosaicism is common and contributes to both cancer and non-cancerous disorders. However, single-cell resolution is required to understand the full genetic heterogeneity that exists within a tissue and the mechanisms that lead to somatic mosaicism. Single-cell DNA-sequencing technologies have traditionally trailed behind those of single-cell transcriptomics and epigenomics, largely because most applications require whole-genome amplification before costly whole-genome sequencing. Now, recent technological and computational advances are enabling the use of single-cell DNA sequencing to tackle previously intractable problems, such as delineating the genetic landscape of tissues with complex clonal patterns, of samples where cellular material is scarce and of non-cycling, postmitotic cells. Single-cell genomes are also revealing the mutational patterns that arise from biological processes or disease states, and have made it possible to track cell lineage in human tissues. These advances in our understanding of tissue biology and our ability to identify disease mechanisms will ultimately transform how disease is diagnosed and monitored.

Indexed as

MosaicismSequence Analysis, DNASingle-Cell AnalysisGenome, HumanHigh-Throughput Nucleotide SequencingHumansMutation

Identifiers

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.