Evidence map›Paper›PMID 41501457›Full record

ArticleNature2026

Insights into DNA repeat expansions among 900,000 biobank participants.

Margaux L A Hujoel, Robert E Handsaker, David Tang, Nolan Kamitaki, Ronen E Mukamel, Simone Rubinacci, Pier Francesco Palamara, Steven A McCarroll, Po-Ru Loh

Abstract read
PubMed Full text at PMC Publisher
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. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing 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

10 citing papers in PubMed.

  1. Review
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

9 authors.

Margaux L A HujoelDivision of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA. mhujoel@ucla.edu.ORCID http://orcid.org/0000-0001-9116-1712
Robert E HandsakerProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-3128-3547
David TangDivision of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Nolan KamitakiDivision of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0003-0614-0189
Ronen E MukamelDivision of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Simone RubinacciDivision of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Pier Francesco PalamaraDepartment of Statistics, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0002-7999-1972
Steven A McCarrollProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Po-Ru LohDivision of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA. poruloh@broadinstitute.org.ORCID http://orcid.org/0000-0001-5542-9064

Funding

Training Program in Bioinformatics and Integrative GenomicsT32HG002295 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI Peter J Park · 2001 to 2026
$15.8M
Leveraging biobank-scale whole-genome sequencing for polygenic risk predictionR01HG013110 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI Po-Ru Loh · 2023 to 2026
$1.8M
Identifying structural variants influencing human health in population cohortsR56HG012698 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI LOH, PO-RU · 2023 to 2023
$400k
NHGRI NIH HHS R01 HG013110NHGRI NIH HHS R56 HG012698NHGRI NIH HHS T32 HG002295
6 · The paper itself

Abstract

Expansions and contractions of tandem DNA repeats generate genetic variation in human populations and in human tissues. Some expanded repeats cause inherited disorders and some are also somatically unstable

Identifiers

PMID41501457
PMCPMC12935551

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.