Evidence map›Paper›PMID 42236576›Full record

ArticleNature computational science2026

MetaSTAARlite: an all-in-one tool for biobank-scale whole-genome sequencing meta-analysis.

Yohhan Kumarasinghe, Jacob Williams, Yuxin Yuan, Wenbo Wang, Julie-Alexia Dias, Haoyu Zhang, Zilin Li, Xihao Li

Abstract read
In one paragraph

Article in Nature computational science, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
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

8 authors.

Yohhan Kumarasinghe *Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Jacob Williams *Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-6425-1365
Yuxin YuanSchool of Mathematics and Statistics and KLAS, Northeast Normal University, Changchun, China.ORCID http://orcid.org/0000-0002-5497-7787
Wenbo WangDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID http://orcid.org/0000-0001-6365-3306
Julie-Alexia DiasDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.ORCID http://orcid.org/0000-0003-3039-9529
Haoyu ZhangDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.ORCID http://orcid.org/0000-0001-6423-0444
Zilin LiSchool of Mathematics and Statistics and KLAS, Northeast Normal University, Changchun, China. lizl@nenu.edu.cn.ORCID http://orcid.org/0000-0003-1521-8945
Xihao LiDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. xihaoli@unc.edu.ORCID http://orcid.org/0000-0001-8151-0106

Funding

Construction and Application of Comprehensive Knowledge Graphs for Alzheimer's DiseaseR01AG085581 · NIA · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Yun Li, Hongtu Zhu · 2024 to 2026
$3.7M
Enhanced Machine Learning Tools for Complex Data Evaluation and Integration in Advancing Health OutcomesR01HL173044 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Baiming Zou, Fei Zou · 2025 to 2026
$1.3M
NHLBI NIH HHS R01 HL173044NIA NIH HHS R01 AG085581U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) 1R01HL173044U.S. Department of Health & Human Services | NIH | National Institute on Aging (U.S. National Institute on Aging) 1R01AG085581
6 · The paper itself

Abstract

Biobank-scale sequencing studies have enabled the analysis of rare variants contributing to complex traits. Here we introduce MetaSTAARlite, a scalable and resource-efficient summary statistics-based pipeline for functionally informed rare-variant meta-analysis in both the coding and noncoding genome, bypassing the data-sharing restrictions of pooled analysis using individual-level data across multiple biobanks. Using the sequencing data of the UK Biobank and the All of Us Research Program, we demonstrate that MetaSTAARlite's computation time, memory and storage requirements scale linearly with sample size, while producing results highly concordant with those of a pooled analysis.

Indexed as

Biological Specimen BanksSoftwareWhole Genome SequencingGenome, HumanHumansUK Biobank

Identifiers

PMID42236576
PMCPMC13244640

What OpenQuestion holds

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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.