Evidence map›Paper›PMID 41637188›Full record

ArticleCell reports2026

Integrating natural and engineered genetic variations to decode regulatory influence on blood traits.

Manuel Tardaguila, Dominique Von Schiller, Michela Colombo, Ilaria Gori, Eve L Coomber, Thomas Vanderstichele, Paola Benaglio, Chiara Chiereghin, Sebastian Gerety, Dragana Vuckovic and 19 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cell reports, 2026. 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

29 authors.

Manuel TardaguilaWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK; Fondazione Human Technopole, Milan, Italy. Electronic address: manuel.tardaguila@fht.org.
Dominique Von SchillerWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Michela ColomboFondazione Human Technopole, Milan, Italy.
Ilaria GoriFondazione Human Technopole, Milan, Italy.
Eve L CoomberWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Thomas VandersticheleWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Paola BenaglioFondazione Human Technopole, Milan, Italy.
Chiara ChiereghinFondazione Human Technopole, Milan, Italy.
Sebastian GeretyWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Dragana VuckovicImperial College London, School of Public Health, Faculty of Medicine, London, UK.
Arianna LandiniFondazione Human Technopole, Milan, Italy.
Giuditta ClericiFondazione Human Technopole, Milan, Italy.
Aurora CasiraghiFondazione Human Technopole, Milan, Italy.
Patrick AlbersWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Helen Ray-JonesMRC Laboratory of Medical Sciences, Faculty of Medicine, Imperial College, London, UK.
Katie L BurnhamWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Alex TokolyiWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Elodie PersynVictor Phillip Dahdaleh Heart and Lung Research Institute, University of Cambridge, Cambridge, UK; Cambridge Baker Systems Genomics Initiative, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK; British Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Mikhail SpivakovVictor Phillip Dahdaleh Heart and Lung Research Institute, University of Cambridge, Cambridge, UK.
Vijay G SankaranDivision of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
Klaudia WalterWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Kousik KunduWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Nicola PirastuFondazione Human Technopole, Milan, Italy.
Michael InouyeVictor Phillip Dahdaleh Heart and Lung Research Institute, University of Cambridge, Cambridge, UK; Cambridge Baker Systems Genomics Initiative, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK; British Heart Foundation Centre of Research Excellence, University of Cambridge, Cambridge, UK; Health Data Research UK Cambridge, Wellcome Genome Campus and University of Cambridge, Cambridge, UK; Cambridge Baker Systems Genomics Initiative, Baker Heart and Diabetes Institute, 75 Commercial Rd., Melbourne, VIC 3004, Australia; British Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Dirk S PaulVictor Phillip Dahdaleh Heart and Lung Research Institute, University of Cambridge, Cambridge, UK; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK; British Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Emma E DavenportWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Pelin SahlénRoyal Institute of Technology - KTH, School of Chemistry, Biotechnology and Health, Science for Life Laboratory, Stockholm, Sweden.
Stephen WattWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Nicole SoranzoWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; British Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK; National Institute for Health Research Blood and Transplant Research Unit in Donor Health and Genomics, University of Cambridge, Cambridge, UK; Fondazione Human Technopole, Milan, Italy. Electronic address: nicole.soranzo@fht.org.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Understanding the function of genetic variants associated with human traits and diseases remains a significant challenge. Here, we combined analyses based on natural genetic variation and genetic engineering to dissect the function of 94 non-coding variants associated with hematological traits. We describe 22 genetic variants impacting hematological variation through gene expression. Further, through in-depth functional analysis, we illustrate how a rare, non-coding variant near the CUX1 transcription factor impacts megakaryopoiesis through the modulation of the CUX1 transcriptional cascade. Collectively, our findings enhance the functional interpretation of genetic association studies and advance understanding of how non-coding variants contribute to blood and immune system variation.

Indexed as

Genetic EngineeringGenetic VariationAnimalsHomeodomain ProteinsHumansMegakaryocytesRepressor ProteinsHomeodomain ProteinsRepressor ProteinsCP: GenomicsCP: Stem cell researchCRISPR-Cas9CUX1GWASknock-inmegakaryocyteMPRAnon-codingscATAC-seqscRNA-seqvariant-to-function

Identifiers

PMID41637188
PMCPMC12932927

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.