Evidence map›Paper›PMID 41473288›Full record

ArticlebioRxiv : the preprint server for biology2025

LDLR variant classification through activity-normalized prime editing screening.

Phillip J Zhou, Minja Velimirovic, Tian Yu, Vojislav Gligorovski, Nicolas Mathis, Jing Zhao, Quang Vinh Phan, Felicitas Vogd, Jayoung Ryu, Qisheng Pan and 6 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

16 authors.

Phillip J ZhouBrigham and Women's Hospital Department of Medicine, Division of Genetics, Boston, MA, USA.
Minja VelimirovicBrigham and Women's Hospital Department of Medicine, Division of Genetics, Boston, MA, USA.
Tian YuBrigham and Women's Hospital Department of Medicine, Division of Genetics, Boston, MA, USA.
Vojislav GligorovskiLaboratory of the Physics of Biological Systems, Institute of Physics, École polytechnique fédérale de Lausanne (EPFL), Lausanne, Switzerland.
Nicolas MathisInstitute of Pharmacology and Toxicology, University of Zurich, Zurich, Switzerland.
Jing ZhaoTranslational Neuroscience Center, Boston Children's Hospital, Boston, MA, USA.
Quang Vinh PhanBrigham and Women's Hospital Department of Medicine, Division of Genetics, Boston, MA, USA.
Felicitas VogdBrigham and Women's Hospital Department of Medicine, Division of Genetics, Boston, MA, USA.
Jayoung RyuMolecular Pathology Unit, Krantz Family Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA.
Qisheng PanSchool of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Queensland, Australia.
Atharva TyagiBrigham and Women's Hospital Department of Medicine, Division of Genetics, Boston, MA, USA.
David B AscherSchool of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Queensland, Australia.
Gerald SchwankInstitute of Pharmacology and Toxicology, University of Zurich, Zurich, Switzerland.
Luca PinelloMolecular Pathology Unit, Krantz Family Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA.
Christopher A CassaBrigham and Women's Hospital Department of Medicine, Division of Genetics, Boston, MA, USA.
Richard I SherwoodBrigham and Women's Hospital Department of Medicine, Division of Genetics, Boston, MA, USA.

Funding

Comprehensive characterization of variants underlying heart and blood diseases with CRISPR base editingUM1HG012010 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · PI Daniel Evan Bauer, Luca Pinello · 2021 to 2026
$10.4M
High-throughput investigation of human genetic variants affecting cholesterol uptake and effluxR01HL164409 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI SHERWOOD, RICHARD I · 2022 to 2025
$3.1M
Development of potent and predictable Cas9 gene activation tools through high-throughput screeningR01GM143249 · NIGMS · BRIGHAM AND WOMEN'S HOSPITAL · PI SHERWOOD, RICHARD I · 2022 to 2024
$1.3M
Integrative computational-experimental approaches to stratify monogenic disease riskR56HG012681 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI CASSA, CHRISTOPHER, SHERWOOD, RICHARD I · 2023 to 2023
$300k
NHGRI NIH HHS R56 HG012681NHGRI NIH HHS UM1 HG012010NHLBI NIH HHS R01 HL164409NIGMS NIH HHS R01 GM143249
6 · The paper itself

Abstract

Background: Inherited variants in the LDL receptor ( Methods: We developed an innovative, activity-normalized prime editing screening pipeline to measure the impact of 5,184 Results: We show that prime editing-mediated reporter editing correlates with endogenous variant installation frequency, allowing activity normalization to improve imputation of Conclusions: Altogether, our approach demonstrates the power of prime editing to significantly improve understanding of how variants in

Identifiers

PMID41473288
PMCPMC12746063

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LicenceCC BY-NC-ND
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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.