Evidence map›Paper›PMID 41163193›Full record

ArticleGenome biology2025

Stratifying variant deleteriousness and trait-modulating effect under human recent adaptation using the FIND model.

Xutong Fan, Dandan Huang, Zhikun Wu, Xinran Dong, Jianhua Wang, Shijie Zhang, Xiaobao Dong, Xiaoqiong Gu, Miaoxin Li, Pak Chung Sham and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genome biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

13 authors.

Xutong Fan *Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Dandan Huang *Department of Pharmacology, Tianjin Key Laboratory of Inflammation Biology, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.
Zhikun Wu *Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Xinran DongCenter for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China.
Jianhua WangDepartment of Bioinformatics, School of Basic Medical Sciences, State Key Laboratory of Experimental Hematology, The Province and Ministry Co-sponsored Collaborative Innovation Center for Medical Epigenetics, Tianjin Medical University, Tianjin, China.
Shijie ZhangDepartment of Pharmacology, Tianjin Key Laboratory of Inflammation Biology, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.
Xiaobao DongDepartment of Genetics, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.
Xiaoqiong GuGuangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Miaoxin LiProgram in Bioinformatics, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, China.
Pak Chung ShamState Key Laboratory of Brain and Cognitive Sciences, The University of Hong Kong, Hong Kong SAR, China.
Xianfu YiDepartment of Bioinformatics, School of Basic Medical Sciences, State Key Laboratory of Experimental Hematology, The Province and Ministry Co-sponsored Collaborative Innovation Center for Medical Epigenetics, Tianjin Medical University, Tianjin, China. yixianfu@tmu.edu.cn.
Wenhao ZhouGuangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China. zhouwenhao@fudan.edu.cn.
Mulin Jun LiGuangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China. mulinli@connect.hku.hk.

Funding

the National Natural Science Foundation of China 32270717
6 · The paper itself

Abstract

Existing methods to distinguish deleterious/pathogenic from neutral variants still inadequately capture the full spectrum of genetic variant impact on fitness and disease susceptibility. We introduce the FIND model, which stratifies genetic variants into refined categories based on fitness spectrum and derived allele frequency. FIND demonstrates enhanced resolution in differentiating trait-modulating alleles from those that are deleterious or neutral, delivering higher performance over existing genome-wide methods. Applying FIND to the interpretation of clinical variants demonstrates its substantial potential in reclassifying variants of unknown significance, providing a new tool to explore the complexities of genetic contributions to health.

Indexed as

Adaptation, PhysiologicalGenetic VariationModels, GeneticAllelesGene FrequencyGenetic Predisposition to DiseaseHumans

Identifiers

PMID41163193
PMCPMC12570701

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.