Evidence map›Paper›PMID 41929321›Full record

ArticlemedRxiv : the preprint server for health sciences2026

Rare coding and noncoding variants map 1,342 diseases and biomarkers in 490,549 whole genomes.

Yuxin Yuan, Yuanyuan Guan, Yannuo Feng, Tony Chen, Yingzi Zhang, Baoqun Chang, Shijie Fan, Chang Lu, Wenyuan Li, Xiaoyu Li and 3 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 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

13 authors.

Yuxin YuanSchool of Mathematics and Statistics and KLAS, Northeast Normal University, Changchun, Jilin, China.ORCID 0000-0002-5497-7787
Yuanyuan GuanSchool of Mathematics and Statistics and KLAS, Northeast Normal University, Changchun, Jilin, China.
Yannuo FengSchool of Mathematics and Statistics and KLAS, Northeast Normal University, Changchun, Jilin, China.
Tony ChenAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Yingzi ZhangSchool of Mathematics and Statistics and KLAS, Northeast Normal University, Changchun, Jilin, China.
Baoqun ChangSchool of Mathematics and Statistics and KLAS, Northeast Normal University, Changchun, Jilin, China.
Shijie FanSchool of Mathematics and Statistics and KLAS, Northeast Normal University, Changchun, Jilin, China.
Chang LuSchool of Psychology, Northeast Normal University, Changchun, Jilin, China.
Wenyuan LiDepartment of Big Data in Health Science, School of Public Health and Center of Clinical Big Data and Analytics of The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Xiaoyu LiDepartment of Sociology, Tsinghua University, Beijing, China.
Xihao LiDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID 0000-0001-8151-0106
Xihong LinDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.ORCID 0000-0001-7067-7752
Zilin LiSchool of Mathematics and Statistics and KLAS, Northeast Normal University, Changchun, Jilin, China.ORCID 0000-0003-1521-8945

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Rare genetic variants are increasingly recognized as important contributors to human trait architecture, with noncoding variants accounting for a substantial portion of the heritability. These variants tend to be less polygenic and more biologically specific than common variants, remaining understudied across large biobanks. Here we analyzed whole genome sequencing (WGS) data from up to 490,549 UK Biobank participants to assess the effects of rare coding and noncoding variants across 1,342 phenotypes, including 944 diseases, 76 clinical biomarkers, and 322 metabolomics traits. We developed and applied

Identifiers

PMID41929321
PMCPMC13042129

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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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 Socratic graph.