Evidence map›Paper›PMID 35549429›Full record

ArticleScience (New York, N.Y.)2022

Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function.

Gökcen Eraslan, Eugene Drokhlyansky, Shankara Anand, Evgenij Fiskin, Ayshwarya Subramanian, Michal Slyper, Jiali Wang, Nicholas Van Wittenberghe, John M Rouhana, Julia Waldman and 16 more

Open access · greenAbstract read
In one paragraph

Article in Science (New York, N.Y.), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 254 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
254citing papers in PubMed, 1 pooled it
35.0field-weighted citation impact, top 1% of its field
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

254 citing papers in PubMed, 1 synthesis or guideline pooled it, 409 citations in OpenAlex.

  1. Pooled it
  2. Article
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  5. Article
  6. Article
  7. Codon-optimizedMolecular therapy. Nucleic acids · 2026
    Article
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  14. Review
  15. Organism-scale annotation with Pan-human Azimuth.bioRxiv : the preprint server for biology · 2026
    Article
  16. Article
  17. Review
  18. Observational
  19. PRECISE: A Prognostic Thyrocyte-Derived Gene Signature for Papillary Thyroid Carcinoma.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026
    Article
  20. Article

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

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

26 authors at 5 institutions in 2 countries.

Gökcen Eraslan *Klarman Cell Observatory, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0001-9579-2909
Eugene Drokhlyansky *Klarman Cell Observatory, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0002-1939-3559
Shankara Anand *The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0003-4514-0835
Evgenij Fiskin *Klarman Cell Observatory, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0002-9510-0826
Ayshwarya Subramanian *Klarman Cell Observatory, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0002-4134-7612
Michal Slyper *Klarman Cell Observatory, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0002-3002-0366
Jiali Wang *Department of Ophthalmology, Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0002-4459-9284
Nicholas Van WittenbergheKlarman Cell Observatory, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0002-7653-9729
John M RouhanaDepartment of Ophthalmology, Harvard Medical School, Boston, MA 02115, USA.
Julia WaldmanKlarman Cell Observatory, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0002-0584-5833
Orr AshenbergKlarman Cell Observatory, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0002-7802-8834
Monkol LekDepartment of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.
Danielle DionneKlarman Cell Observatory, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0002-8338-4323
Thet Su WinDepartment of Dermatology, Brigham and Women's Hospital, Boston, MA 02115, USA.
Michael S CuocoKlarman Cell Observatory, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0003-2163-5120
Olena KuksenkoKlarman Cell Observatory, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0002-1728-4957
Alexander M TsankovIcahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0002-7955-4414
Philip A BrantonThe Joint Pathology Center Gynecologic/Breast Pathology, Silver Spring, MD 20910, USA.ORCID 0000-0002-0898-9605
Jamie L MarshallThe Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0002-2364-391X
Anna GrekaThe Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0001-5697-7791
Gad GetzThe Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0002-0936-0753
Ayellet V Segrè *Department of Ophthalmology, Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0001-6806-5845
François Aguet *The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0001-9414-300X
Orit Rozenblatt-Rosen *Klarman Cell Observatory, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0001-6313-3570
Kristin G Ardlie *The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0003-4272-6283
Aviv Regev *Klarman Cell Observatory, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0003-3293-3158
Broad Institute · USBreast Center · CHBrigham and Women's Hospital · USIcahn School of Medicine at Mount Sinai · USYale University · US

Funding

A portal and integrative collaborative analysis platform for GTExU41HG009494 · NHGRI · BROAD INSTITUTE, INC. · PI ARDLIE, KRISTIN · 2017 to 2021
$5.2M
Uncovering novel biological processes and pathogenic mechanisms for glaucomaR01EY031424 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Ayellet Vered Segre · 2020 to 2026
$4.5M
Decoding the cellular mechanisms of COVID-19 severe disease susceptibility in patients with chronic respiratory diseaseR56HL157632 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI TSANKOV, ALEXANDER MINCHEV · 2021 to 2021
$839k
Single-cell analysis of the lung immune microenvironment and cell-cell interactions across healthy and diseased patientsR21HL156124 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI TSANKOV, ALEXANDER MINCHEV · 2021 to 2022
$254k
Comparative, single-cell analysis of COVID-19 and other respiratory diseasesR21HL161760 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI TSANKOV, ALEXANDER MINCHEV · 2022 to 2023
$254k
NEI NIH HHS R01 EY031424NHGRI NIH HHS U41 HG009494NHLBI NIH HHS HHSN268201000029CNHLBI NIH HHS R21 HL156124NHLBI NIH HHS R21 HL161760NHLBI NIH HHS R56 HL157632
6 · The paper itself

Abstract

Understanding gene function and regulation in homeostasis and disease requires knowledge of the cellular and tissue contexts in which genes are expressed. Here, we applied four single-nucleus RNA sequencing methods to eight diverse, archived, frozen tissue types from 16 donors and 25 samples, generating a cross-tissue atlas of 209,126 nuclei profiles, which we integrated across tissues, donors, and laboratory methods with a conditional variational autoencoder. Using the resulting cross-tissue atlas, we highlight shared and tissue-specific features of tissue-resident cell populations; identify cell types that might contribute to neuromuscular, metabolic, and immune components of monogenic diseases and the biological processes involved in their pathology; and determine cell types and gene modules that might underlie disease mechanisms for complex traits analyzed by genome-wide association studies.

Indexed as

Cell NucleusDiseaseRNA-SeqBiomarkersGenome-Wide Association StudyHumansOrgan SpecificityPhenotypeBiomarkers

Identifiers

PMID35549429
PMCPMC9383269
OpenAlexW4280633014

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.