Evidence map›Paper›PMID 37085594›Full record

ReviewNature reviews. Genetics2023

Single-cell genomics meets human genetics.

Anna S E Cuomo, Aparna Nathan, Soumya Raychaudhuri, Daniel G MacArthur, Joseph E Powell

Abstract readReview
In one paragraph

Review in Nature reviews. Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 80 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
80citing papers in PubMed, 1 pooled it
–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

80 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Review
  11. Functional Genomics Studies of Psychiatric Disorders in Individuals of Latin American Populations: A Scoping Review.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2026
    Article
  12. Article
  13. Article
  14. Cardiac epigenome in heart development and disease.Nature reviews. Cardiology · 2026
    Review
  15. Article
  16. Article
  17. Review
  18. Article
  19. Review
  20. Article

20 more citing papers are in PubMed but not listed here.

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

5 authors.

Anna S E CuomoGarvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales, Australia. a.cuomo@garvan.org.au.ORCID 0000-0001-5168-6979
Aparna NathanCenter for Data Sciences, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-5975-2851
Soumya RaychaudhuriCenter for Data Sciences, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-1901-8265
Daniel G MacArthurCentre for Population Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.ORCID 0000-0002-5771-2290
Joseph E PowellGarvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales, Australia. j.powell@garvan.org.au.ORCID 0000-0002-5070-4124

Funding

Role of fibroblastic stromal cells and notch signaling in tissue inflammation in RA and SLEP01AI148102 · NIAID · BRIGHAM AND WOMEN'S HOSPITAL · PI Betty Diamond · 2021 to 2026
$17.3M
Discovery and Functional Impact of Common and Rare Variants in RAR01AR063759 · NIAMS · BRIGHAM AND WOMEN'S HOSPITAL · PI Soumya Raychaudhuri · 2013 to 2026
$5.4M
RA-SLE Molecular Deconstruction Leadership CenterUH2AR067677 · NIAMS · BRIGHAM AND WOMEN'S HOSPITAL · PI BRENNER, MICHAEL B., RAYCHAUDHURI, SOUMYA · 2014 to 2020
$4.3M
Predicting the impact of genetic variants, genes and pathways on human DiseaseU01HG012009 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI ALKES L PRICE, Soumya Raychaudhuri · 2021 to 2026
$4.2M
Functionally specialized components of disease heritability in ENCODE dataU01HG009379 · NHGRI · HARVARD SCHOOL OF PUBLIC HEALTH · PI PRICE, ALKES L, RAYCHAUDHURI, SOUMYA · 2017 to 2021
$2.5M
Integrative modelling of single-cell data to elucidate the genetic architecture of complex diseaseR56HG013083 · NHGRI · DANA-FARBER CANCER INST · PI GUSEV, ALEXANDER, PRICE, ALKES L · 2023 to 2023
$400k
NHGRI NIH HHS U01 HG009379NHGRI NIH HHS U01 HG012009NIAID NIH HHS P01 AI148102NIAMS NIH HHS R01 AR063759NIAMS NIH HHS UH2 AR067677
6 · The paper itself

Abstract

Single-cell genomic technologies are revealing the cellular composition, identities and states in tissues at unprecedented resolution. They have now scaled to the point that it is possible to query samples at the population level, across thousands of individuals. Combining single-cell information with genotype data at this scale provides opportunities to link genetic variation to the cellular processes underpinning key aspects of human biology and disease. This strategy has potential implications for disease diagnosis, risk prediction and development of therapeutic solutions. But, effectively integrating large-scale single-cell genomic data, genetic variation and additional phenotypic data will require advances in data generation and analysis methods. As single-cell genetics begins to emerge as a field in its own right, we review its current state and the challenges and opportunities ahead.

Indexed as

GenomeGenomicsGenotypeHuman GeneticsHumans

Identifiers

PMID37085594
PMCPMC10784789

What OpenQuestion holds

Textmetadata
LicenceTDM
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.