Evidence map›Paper›PMID 39738056›Full record

ArticleNature communications2024

SEAD reference panel with 22,134 haplotypes boosts rare variant imputation and genome-wide association analysis in Asian populations.

Meng-Yuan Yang, Jia-Dong Zhong, Xin Li, Geng Tian, Wei-Yang Bai, Yi-Hu Fang, Mo-Chang Qiu, Cheng-Da Yuan, Chun-Fu Yu, Nan Li and 27 more

Abstract read
In one paragraph

Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing 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

14 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Review
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Recent applications of dendritic polymers in analytical sciences.Analytical sciences : the international journal of the Japan Society for Analytical Chemistry · 2025
    Article
  14. Review
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

37 authors.

Meng-Yuan Yang *School of Life Sciences, Zhejiang University, Hangzhou, Zhejiang, China.
Jia-Dong Zhong *Center for Health and Data Science (CHDS), the Second Affiliated Hospital of Soochow University, Suzhou, Jiangsu, China.
Xin Li *School of Life Sciences, Zhejiang University, Hangzhou, Zhejiang, China.
Geng Tian *WBBC Shandong Center, Binzhou Medical University, Yantai, Shandong, China.
Wei-Yang Bai *Diseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China.
Yi-Hu FangWBBC Jiangxi Center, Jiangxi Medical College, Shangrao, Jiangxi, China.
Mo-Chang QiuWBBC Jiangxi Center, Jiangxi Medical College, Shangrao, Jiangxi, China.
Cheng-Da YuanDepartment of Dermatology, Hangzhou Hospital of Traditional Chinese Medicine, Hangzhou, Zhejiang, China.
Chun-Fu YuDepartment of Orthopedic Surgery, Shangrao Municipal Hospital, Shangrao, Jiangxi, China.
Nan LiThe High-Performance Computing Center, Westlake University, Hangzhou, Zhejiang, China.ORCID 0000-0001-7826-4688
Ji-Jian YangThe High-Performance Computing Center, Westlake University, Hangzhou, Zhejiang, China.
Yu-Heng LiuThe High-Performance Computing Center, Westlake University, Hangzhou, Zhejiang, China.
Shi-Hui YuClinical Genome Center, KingMed Diagnostics, Co., Ltd, Guangzhou, Guangdong, China.
Wei-Wei ZhaoClinical Genome Center, KingMed Diagnostics, Co., Ltd, Guangzhou, Guangdong, China.
Jun-Quan LiuClinical Genome Center, KingMed Diagnostics, Co., Ltd, Guangzhou, Guangdong, China.ORCID 0000-0002-3697-8866
Yi SunClinical Genome Center, KingMed Diagnostics, Co., Ltd, Guangzhou, Guangdong, China.
Pei-Kuan CongDiseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China.ORCID 0000-0002-4921-5657
Saber KhederzadehDiseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China.ORCID 0000-0002-0115-8710
Pian-Pian ZhaoDiseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China.ORCID 0009-0009-1676-1748
Yu QianCenter for Health and Data Science (CHDS), the Second Affiliated Hospital of Soochow University, Suzhou, Jiangsu, China.
Peng-Lin GuanSchool of Life Sciences, Zhejiang University, Hangzhou, Zhejiang, China.
Jia-Xuan GuSchool of Life Sciences, Zhejiang University, Hangzhou, Zhejiang, China.
Si-Rui GaiSchool of Life Sciences, Zhejiang University, Hangzhou, Zhejiang, China.
Xiang-Jiao YiDiseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China.
Jian-Guo TaoSchool of Life Sciences, Zhejiang University, Hangzhou, Zhejiang, China.ORCID 0000-0002-3473-9212
Xiang ChenCenter for Health and Data Science (CHDS), the Second Affiliated Hospital of Soochow University, Suzhou, Jiangsu, China.ORCID 0000-0003-3188-8332
Mao-Mao MiaoDiseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China.
Lan-Xin LeiMedical Biosciences, Imperial College London, London, United Kingdom.ORCID 0009-0000-9533-1109
Lin XuWBBC Shandong Center, Binzhou Medical University, Yantai, Shandong, China.
Shu-Yang XieWBBC Shandong Center, Binzhou Medical University, Yantai, Shandong, China.
Jin-Chen LiNational Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China.ORCID 0000-0001-5522-806X
Ji-Feng GuoNational Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China.ORCID 0000-0002-3658-3928
David KarasikAzrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel.ORCID 0000-0002-8826-0530
Liu YangInstitute of Orthopedic Surgery, Xijing Hospital, Fourth Military Medical University, Xi'an, 710032, China.ORCID 0000-0002-6498-4702
Bei-Sha TangNational Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China.ORCID 0000-0003-2120-1576
Fei HuangWBBC Shandong Center, Binzhou Medical University, Yantai, Shandong, China.
Hou-Feng ZhengCenter for Health and Data Science (CHDS), the Second Affiliated Hospital of Soochow University, Suzhou, Jiangsu, China. houf.zheng@suda.edu.cn.

Funding

National Natural Science Foundation of China (National Science Foundation of China) 82370887
6 · The paper itself

Abstract

Limited whole genome sequencing (WGS) studies in Asian populations result in a lack of representative reference panels, thus hindering the discovery of ancestry-specific variants. Here, we present the South and East Asian reference Database (SEAD) panel ( https://imputationserver.westlake.edu.cn/ ), which integrates WGS data for 11,067 individuals from various sources across 17 Asian countries. The SEAD panel, comprising 22,134 haplotypes and 88,294,957 variants, demonstrates improved imputation accuracy for South Asian populations compared to 1000 Genomes Project, TOPMed, and ChinaMAP panels, with a higher proportion of well-imputed rare variants. For East Asian populations, SEAD shows concordance comparable to ChinaMAP, but outperforming TOPMed. Additionally, we apply the SEAD panel to conduct a genome-wide association study for total hip (Hip) and femoral neck (FN) bone mineral density (BMD) traits in 5369 genotyped Chinese samples. The single-variant test suggests that rare variants near SNTG1 are associated with Hip BMD (rs60103302, MAF = 0.0092, P = 1.67 × 10

Indexed as

Asian PeopleGenome-Wide Association StudyHaplotypesPolymorphism, Single NucleotideBone DensityDatabases, GeneticGenome, HumanHumansWhole Genome Sequencing

Identifiers

PMID39738056
PMCPMC11686012

What OpenQuestion holds

Textmetadata
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.