Evidence map›Paper›PMID 41639462›Full record

ArticleNature2026

Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes.

Xueqing Zoe Zou, Fengyuan Hu, Haiyi Lou, Oliver S Burren, Xiaoyin Li, Karyn Megy, Eleanor Wheeler, Qiang Wu, Santosh S Atanur, Marcin Karpinski and 24 more

Erratum issuedAbstract read
In one paragraph

Article in Nature, 2026. 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 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

34 authors.

Xueqing Zoe ZouCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK. zoe.zou@astrazeneca.com.ORCID 0000-0003-1143-1028
Fengyuan HuCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Haiyi LouCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Shanghai, China.
Oliver S BurrenCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Xiaoyin LiCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Gaithersburg, MD, USA.
Karyn MegyCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Eleanor WheelerCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.ORCID 0000-0002-8616-6444
Qiang WuCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Waltham, MA, USA.ORCID 0000-0002-4698-6966
Santosh S AtanurCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Marcin KarpinskiCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Douglas LoeschCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Zammy Fairhurst-HunterCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Sri V V DeeviCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.ORCID 0000-0002-0405-4335
Erin OertonCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.ORCID 0000-0002-7367-4263
Sean WenCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Xiao JiangCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Cecilia SalvoroCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Jonathan MitchellCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.ORCID 0000-0003-3792-4058
Abhishek NagCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Ben HollisCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Amanda O'NeillCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
AstraZeneca Genomics Initiative
Jen HarrowCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.ORCID 0000-0003-0338-3070
Stewart MacArthurCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.ORCID 0000-0003-0201-7044
Sebastian WasilewskiCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Sean O'DellCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Lifeng TianCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Shanghai, China.
Katherine R SmithCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.ORCID 0000-0002-0329-5938
Guillermo Del AngelCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Boston, MA, USA.
Margarete FabreCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.ORCID 0000-0001-7794-610X
Ryan S DhindsaCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Waltham, MA, USA.ORCID 0000-0002-8965-0813
Quanli Wang *Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Waltham, MA, USA.
Slavé Petrovski *Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK. slav.petrovski@astrazeneca.com.ORCID 0000-0002-1527-961X
Keren Carss *Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.ORCID 0000-0003-4939-156X

Funding

Identifying transcriptomic and epigenomic convergence in intellectual and developmental disordersDP5OD036131 · OD · BAYLOR COLLEGE OF MEDICINE · PI Ryan Dhindsa · 2023 to 2026
$2.0M
NIH HHS DP5 OD036131
6 · The paper itself

Abstract

Copy number variants (CNVs) are key drivers of human diversity and disease risk

Indexed as

Biological Specimen BanksDNA Copy Number VariationsGenome, HumanGenome-Wide Association StudyPhenomicsPhenotypeFemaleGenetic Predisposition to DiseaseHumansMalePolymorphism, Single NucleotideProteomicsQuantitative Trait LociTelomereUK BiobankUnited Kingdom

Identifiers

PMID41639462
PMCPMC13083251

What OpenQuestion holds

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LicenceCC BY-NC-ND
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.