Evidence map›Paper›PMID 36711496›Full record

ArticlemedRxiv : the preprint server for health sciences2023

Fine-mapping across diverse ancestries drives the discovery of putative causal variants underlying human complex traits and diseases.

Kai Yuan, Ryan J Longchamps, Antonio F Pardiñas, Mingrui Yu, Tzu-Ting Chen, Shu-Chin Lin, Yu Chen, Max Lam, Ruize Liu, Yan Xia and 12 more

Abstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2023. 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

5 · Who and what money

Authors and funding

22 authors.

Kai YuanAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Ryan J LongchampsAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Antonio F PardiñasMRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff, UK.
Mingrui YuAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Tzu-Ting ChenCenter for Neuropsychiatric Research, National Health Research Institutes, Miaoli, Taiwan.
Shu-Chin LinCenter for Neuropsychiatric Research, National Health Research Institutes, Miaoli, Taiwan.
Yu ChenCenter for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences and Department of Psychiatry, The Second Xiangya Hospital, Central South University, Changsha, China.
Max LamAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Ruize LiuAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Yan XiaAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Zhenglin GuoStanley Center for Psychiatric Research, the Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Wenzhao ShiDigital Health China Technologies Corp. Ltd., Beijing, China.
Chengguo ShenDigital Health China Technologies Corp. Ltd., Beijing, China.
Schizophrenia Workgroup of Psychiatric Genomics Consortium
Mark J DalyAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Benjamin M NealeAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Yen-Chen A FengInstitute of Epidemiology and Preventive Medicine, College of Public Health, National Taiwan University, Taipei, Taiwan.
Yen-Feng LinCenter for Neuropsychiatric Research, National Health Research Institutes, Miaoli, Taiwan.
Chia-Yen ChenBiogen, Cambridge, MA, USA.
Michael O'DonovanMRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff, UK.
Tian GeStanley Center for Psychiatric Research, the Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Hailiang HuangAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.

Funding

Pilot & Feasibility ProgramP30DK043351 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI Ramnik J Xavier · 1991 to 2026
$35.3M
1/4 Asian Bipolar Genetics Network (A-BIG-NET)R01MH130675 · NIMH · BROAD INSTITUTE, INC. · PI Hailiang Huang · 2022 to 2026
$9.0M
2/7 Psychiatric Genomics Consortium: Finding Actionable VariationU01MH109539 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI DALY, MARK JOSEPH · 2016 to 2020
$4.7M
Identification and characterization of inflammatory bowel disease causal variantsR01DK129364 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI Hailiang Huang · 2022 to 2026
$3.4M
Improving Methods and Practices for Trans-Ethnic Genetic StudiesR01HG012354 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · PI Tian Ge · 2023 to 2026
$2.2M
Genetics and gene regulation in the inflammatory bowel diseasesK01DK114379 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI HUANG, HAILIANG · 2017 to 2021
$632k
Medical Research Council MC_PC_17228Medical Research Council MR/L010305/1Medical Research Council MR/L011794/1Medical Research Council MR/P005748/1NHGRI NIH HHS R01 HG012354NIDDK NIH HHS K01 DK114379NIDDK NIH HHS P30 DK043351NIDDK NIH HHS R01 DK129364NIMH NIH HHS R01 MH130675NIMH NIH HHS U01 MH109539
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) of human complex traits or diseases often implicate genetic loci that span hundreds or thousands of genetic variants, many of which have similar statistical significance. While statistical fine-mapping in individuals of European ancestries has made important discoveries, cross-population fine-mapping has the potential to improve power and resolution by capitalizing on the genomic diversity across ancestries. Here we present SuSiEx, an accurate and computationally efficient method for cross-population fine-mapping, which builds on the single-population fine-mapping framework, Sum of Single Effects (SuSiE). SuSiEx integrates data from an arbitrary number of ancestries, explicitly models population-specific allele frequencies and LD patterns, accounts for multiple causal variants in a genomic region, and can be applied to GWAS summary statistics. We comprehensively evaluated SuSiEx using simulations, a range of quantitative traits measured in both UK Biobank and Taiwan Biobank, and schizophrenia GWAS across East Asian and European ancestries. In all evaluations, SuSiEx fine-mapped more association signals, produced smaller credible sets and higher posterior inclusion probability (PIP) for putative causal variants, and captured population-specific causal variants.

Identifiers

PMID36711496
PMCPMC9882563

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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.