Evidence map›Paper›PMID 41497669›Full record

ArticlebioRxiv : the preprint server for biology2025

CRISPR-HAWK: Haplotype- and Variant-aware guide design toolkit for CRISPR-Cas.

Alisa Kumbara, Manuel Tognon, Giulia Carone, Arianna Fontanesi, Nicola Bombieri, Rosalba Giugno, Luca Pinello

Abstract readPreprint
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

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

7 authors.

Alisa KumbaraDepartment of Engineering for Innovation Medicine, University of Verona, Verona, 37134, VR, Italy.ORCID 0009-0002-3899-3928
Manuel TognonDepartment of Computer Science, University of Verona, Verona, 37134, VR, Italy.ORCID 0000-0002-6707-2071
Giulia CaroneDepartment of Computer Science, University of Verona, Verona, 37134, VR, Italy.ORCID 0009-0006-5459-0677
Arianna FontanesiDepartment of Computer Science, University of Verona, Verona, 37134, VR, Italy.ORCID 0009-0003-1422-5323
Nicola BombieriDepartment of Engineering for Innovation Medicine, University of Verona, Verona, 37134, VR, Italy.ORCID 0000-0003-3256-5885
Rosalba GiugnoDepartment of Computer Science, University of Verona, Verona, 37134, VR, Italy.ORCID 0000-0001-9843-7638
Luca PinelloMolecular Pathology Unit, Center for Computational and Integrative Biology and Center for Cancer Research, Massachusetts General Hospital, Charlestown, 02129, MA, USA.ORCID 0000-0003-1109-3823

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
Computational tools for precision genome editingR01HG013618 · NHGRI · BOSTON CHILDREN'S HOSPITAL · PI Daniel Evan Bauer, Luca Pinello · 2024 to 2026
$2.3M
NHGRI NIH HHS R01 HG013618NHGRI NIH HHS UM1 HG012010
6 · The paper itself

Abstract

Motivation: Current CRISPR guide RNA design tools rely on reference genomes, overlooking how genetic variation impacts editing outcomes. As genome editing advances toward clinical applications, incorporating population diversity becomes essential for ensuring therapeutic efficacy across diverse populations. Results: We present CRISPR-HAWK, a framework integrating individual- and population-scale variants and haplotypes into gRNA design. Analyzing therapeutic targets across 79,648 genomes reveals that genetic variants substantially alter guide performance. For the clinically approved sickle cell disease therapeutic guide targeting BCL11A, we identify haplotypes that completely abolish predicted cutting activity. Across seven therapeutic loci, 82.5% of guides contain variants modifying on-target activity. Variants also create novel protospacer adjacent motif sites generating individual-specific guides invisible to reference-based design. These findings demonstrate that variant-aware selection is critical for equitable genome editing.

Identifiers

PMID41497669
PMCPMC12767513

What OpenQuestion holds

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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.