Evidence map›Paper›PMID 30612741›Full record

ArticleCell2019

A Genome-wide Framework for Mapping Gene Regulation via Cellular Genetic Screens.

Molly Gasperini, Andrew J Hill, José L McFaline-Figueroa, Beth Martin, Seungsoo Kim, Melissa D Zhang, Dana Jackson, Anh Leith, Jacob Schreiber, William S Noble and 3 more

Erratum issuedAbstract read
In one paragraph

Article in Cell, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 351 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
351citing 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

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

  1. Pooled it
  2. Review
  3. Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Review
  9. Article
  10. Article
  11. Locus-Scale Massively Parallel Reporter Assays.bioRxiv : the preprint server for biology · 2026
    Article
  12. Article
  13. Article
  14. Article
  15. Review
  16. Pleiotropic effects of cis-regulatory mutations.Nature reviews. Genetics · 2026
    Article
  17. Article
  18. Article
  19. Article
  20. Gigabase-scale deletion scanning of the human genome.bioRxiv : the preprint server for biology · 2026
    Article

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

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

13 authors.

Molly GasperiniDepartment of Genome Sciences, University of Washington, Seattle, WA 98105, USA. Electronic address: gasperim@uw.edu.
Andrew J HillDepartment of Genome Sciences, University of Washington, Seattle, WA 98105, USA.
José L McFaline-FigueroaDepartment of Genome Sciences, University of Washington, Seattle, WA 98105, USA.
Beth MartinDepartment of Genome Sciences, University of Washington, Seattle, WA 98105, USA.
Seungsoo KimDepartment of Genome Sciences, University of Washington, Seattle, WA 98105, USA.
Melissa D ZhangDepartment of Genome Sciences, University of Washington, Seattle, WA 98105, USA.
Dana JacksonDepartment of Genome Sciences, University of Washington, Seattle, WA 98105, USA.
Anh LeithDepartment of Genome Sciences, University of Washington, Seattle, WA 98105, USA.
Jacob SchreiberPaul G. Allen School of Computer Science and Engineering, University of Washington, Seattle, WA 98105, USA.
William S NobleDepartment of Genome Sciences, University of Washington, Seattle, WA 98105, USA; Paul G. Allen School of Computer Science and Engineering, University of Washington, Seattle, WA 98105, USA.
Cole TrapnellDepartment of Genome Sciences, University of Washington, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA 98105, USA.
Nadav AhituvDepartment of Bioengineering and Therapeutic Sciences, Institute for Human Genetics, University of California San Francisco, San Francisco, CA 94143, USA.
Jay ShendureDepartment of Genome Sciences, University of Washington, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA 98105, USA; Howard Hughes Medical Institute, Seattle, WA 98105, USA. Electronic address: shendure@uw.edu.

Funding

INTERDISCIPLINARY TRAINING IN GENOMIC SCIENCEST32HG000035 · NHGRI · UNIVERSITY OF WASHINGTON · PI Bruce Colston Trapnell · 1995 to 2026
$24.2M
EDAC: ENCODE Data Analysis CenterU24HG009446 · NHGRI · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI GERSTEIN, MARK BENDER, WENG, ZHIPING · 2017 to 2022
$10.4M
CARDIOVASCULAR RESEARCH TRAINING PROGRAMT32HL007828 · NHLBI · UNIVERSITY OF WASHINGTON · PI Francis Kim, Farid Moussavi-Harami · 1997 to 2026
$10.2M
Massively parallel reporter assays and genome editing of ENCODE predicted regulatory elementsUM1HG009408 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI AHITUV, NADAV, SHENDURE, JAY ASHOK · 2017 to 2021
$7.6M
Pulmonary Macrophage Transplantation for Pulmonary Alveolar ProteinosisR01HL118342 · NHLBI · CINCINNATI CHILDRENS HOSP MED CTR · PI TRAPNELL, BRUCE C, TRAPNELL, BRUCE COLSTON · 2014 to 2021
$4.5M
Interpreting Genetic Variants of Uncertain SignificanceDP1HG007811 · NHGRI · UNIVERSITY OF WASHINGTON · PI SHENDURE, JAY ASHOK · 2013 to 2017
$3.8M
Charting the regulatory topography of the cell differentiation landscape with single-cell RNA-Seq.DP2HD088158 · NICHD · UNIVERSITY OF WASHINGTON · PI TRAPNELL, BRUCE COLSTON · 2015 to 2015
$2.3M
Howard Hughes Medical InstituteNHGRI NIH HHS DP1 HG007811NHGRI NIH HHS T32 HG000035NHGRI NIH HHS U24 HG009446NHGRI NIH HHS UM1 HG009408NHLBI NIH HHS R01 HL118342NHLBI NIH HHS T32 HL007828NICHD NIH HHS DP2 HD088158
6 · The paper itself

Abstract

Over one million candidate regulatory elements have been identified across the human genome, but nearly all are unvalidated and their target genes uncertain. Approaches based on human genetics are limited in scope to common variants and in resolution by linkage disequilibrium. We present a multiplex, expression quantitative trait locus (eQTL)-inspired framework for mapping enhancer-gene pairs by introducing random combinations of CRISPR/Cas9-mediated perturbations to each of many cells, followed by single-cell RNA sequencing (RNA-seq). Across two experiments, we used dCas9-KRAB to perturb 5,920 candidate enhancers with no strong a priori hypothesis as to their target gene(s), measuring effects by profiling 254,974 single-cell transcriptomes. We identified 664 (470 high-confidence) cis enhancer-gene pairs, which were enriched for specific transcription factors, non-housekeeping status, and genomic and 3D conformational proximity to their target genes. This framework will facilitate the large-scale mapping of enhancer-gene regulatory interactions, a critical yet largely uncharted component of the cis-regulatory landscape of the human genome.

Indexed as

Chromosome MappingClustered Regularly Interspaced Short Palindromic RepeatsCRISPR-Cas SystemsEnhancer Elements, GeneticGene Expression ProfilingGene Expression RegulationGene Regulatory NetworksGenome, HumanGenome-Wide Association StudyGenomicsHumansQuantitative Trait LociTranscription FactorsTranscription FactorsCRISPRCRISPRicrisprQTLenhancereQTLgene regulationgenetic screenhuman geneticsRNA-seqsingle cell

Identifiers

PMID30612741
PMCPMC6690346

What OpenQuestion holds

Textmetadata
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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.