Evidence map›Paper›PMID 38233398›Full record

ArticleNature communications2024

Leveraging single-cell ATAC-seq and RNA-seq to identify disease-critical fetal and adult brain cell types.

Samuel S Kim, Buu Truong, Karthik Jagadeesh, Kushal K Dey, Amber Z Shen, Soumya Raychaudhuri, Manolis Kellis, Alkes L Price

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.

0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed
8.4field-weighted citation impact, top 2% 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

38 citing papers in PubMed, 40 citations in OpenAlex.

  1. Article
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  8. Modern Mining: The Role of Single-cell RNA Sequencing in Advancing Neuroscience Research.BioEssays : news and reviews in molecular, cellular and developmental biology · 2026
    Review
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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

8 authors at 5 institutions in 1 country.

Samuel S KimDepartment of Electrical Engineering and Computer Science, Massachusetts Institute of Technology, Cambridge, MA, UK. samuelkim484@gmail.com.ORCID 0000-0003-0491-0784
Buu Truong *Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, UK. btruong@broadinstitute.org.ORCID 0000-0003-0043-0812
Karthik Jagadeesh *Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, UK.
Kushal K Dey *Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, UK.ORCID 0000-0002-3520-2345
Amber Z ShenDepartment of Mathematics, Massachusetts Institute of Technology, Cambridge, MA, USA.
Soumya RaychaudhuriDivision of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-1901-8265
Manolis KellisDepartment of Electrical Engineering and Computer Science, Massachusetts Institute of Technology, Cambridge, MA, UK.ORCID 0000-0001-7113-9630
Alkes L PriceDepartment of Electrical Engineering and Computer Science, Massachusetts Institute of Technology, Cambridge, MA, UK. aprice@hsph.harvard.edu.ORCID 0000-0002-2971-7975
Broad Institute · USMassachusetts Institute of Technology · USBrigham and Women's Hospital · USHarvard University · USMemorial Sloan Kettering Cancer Center · US

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4M
Role of fibroblastic stromal cells and notch signaling in tissue inflammation in RA and SLEP01AI148102 · NIAID · BRIGHAM AND WOMEN'S HOSPITAL · PI Nir Hacohen · 2021 to 2026
$17.3M
Training Program in Bioinformatics and Integrative GenomicsT32HG002295 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI Peter J Park · 2001 to 2026
$15.8M
Statistical methods for studies of rare variantsR01MH101244 · NIMH · HARVARD MEDICAL SCHOOL · PI Benjamin Michael Neale, ALKES L PRICE · 2013 to 2026
$9.4M
Statistical methods to localize disease heritability and identify biological mechanismsR37MH107649 · NIMH · BROAD INSTITUTE, INC. · PI Benjamin Michael Neale · 2019 to 2026
$7.0M
Methods for Genome-wide Association Studies in Admixed PopulationsR01HG006399 · NHGRI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI PRICE, ALKES L · 2011 to 2024
$6.3M
Joint genomic and statistical analyses of schizophrenia and bipolar to decipher genetic susceptibilityR01MH115676 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Roel A Ophoff, Bogdan Pasaniuc · 2018 to 2026
$5.9M
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
Network-based prediction and validation of causal schizophrenia genes and variantsR01MH109978 · NIMH · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI EGGAN, KEVIN C, KELLIS, MANOLIS · 2016 to 2020
$2.1M
New approaches for leveraging single-cell data to identify disease-critical genes and gene setsR00HG012203 · NHGRI · SLOAN-KETTERING INST CAN RESEARCH · PI DEY, KUSHAL KUMAR · 2023 to 2025
$747k
Single Cell Transcriptional and Epigenomic Dissection of Schizophrenia and Bipoloar DiseaseU01MH119509 · NIMH · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI KELLIS, MANOLIS · 2019 to 2019
$625k
NCI NIH HHS P30 CA008748NHGRI NIH HHS F31 HG010818NHGRI NIH HHS R00 HG012203NHGRI NIH HHS R01 HG006399NHGRI NIH HHS R56 HG013083NHGRI NIH HHS T32 HG002295NHGRI NIH HHS U01 HG009379NHGRI NIH HHS U01 HG012009NIAID NIH HHS P01 AI148102NIMH NIH HHS R01 MH101244NIMH NIH HHS R01 MH109978NIMH NIH HHS R01 MH115676NIMH NIH HHS R37 MH107649NIMH NIH HHS U01 MH119509
6 · The paper itself

Abstract

Prioritizing disease-critical cell types by integrating genome-wide association studies (GWAS) with functional data is a fundamental goal. Single-cell chromatin accessibility (scATAC-seq) and gene expression (scRNA-seq) have characterized cell types at high resolution, and studies integrating GWAS with scRNA-seq have shown promise, but studies integrating GWAS with scATAC-seq have been limited. Here, we identify disease-critical fetal and adult brain cell types by integrating GWAS summary statistics from 28 brain-related diseases/traits (average N = 298 K) with 3.2 million scATAC-seq and scRNA-seq profiles from 83 cell types. We identified disease-critical fetal (respectively adult) brain cell types for 22 (respectively 23) of 28 traits using scATAC-seq, and for 8 (respectively 17) of 28 traits using scRNA-seq. Significant scATAC-seq enrichments included fetal photoreceptor cells for major depressive disorder, fetal ganglion cells for BMI, fetal astrocytes for ADHD, and adult VGLUT2 excitatory neurons for schizophrenia. Our findings improve our understanding of brain-related diseases/traits and inform future analyses.

Indexed as

Chromatin Immunoprecipitation SequencingMajor Depressive DisorderBrainChromatinGenome-Wide Association StudyHumansRNA-SeqSingle-Cell AnalysisChromatin

Identifiers

PMID38233398
PMCPMC10794712
OpenAlexW4390946851

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Registered trials

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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.