Evidence map›Paper›PMID 38065072›Full record

ArticleAmerican journal of human genetics2023

Tree-based QTL mapping with expected local genetic relatedness matrices.

Vivian Link, Joshua G Schraiber, Caoqi Fan, Bryan Dinh, Nicholas Mancuso, Charleston W K Chiang, Michael D Edge

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed
8.5field-weighted citation impact, top 2% of its field
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

26 citing papers in PubMed, 27 citations in OpenAlex.

  1. Article
  2. Observational epidemiological studies can mitigate genetic confounding with a genetic relatedness matrix.Proceedings of the National Academy of Sciences of the United States of America · 2026
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  10. Mathematical bounds on rTheoretical population biology · 2025
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  12. On ARGs, pedigrees, and genetic relatedness matrices.bioRxiv : the preprint server for biology · 2025
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  14. Review
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  16. Mathematical bounds onbioRxiv : the preprint server for biology · 2024
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

7 authors at 1 institution in 1 country.

Vivian LinkDepartment of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA.
Joshua G SchraiberDepartment of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA.
Caoqi FanDepartment of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA; Center for Genetic Epidemiology, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Bryan DinhDepartment of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA; Center for Genetic Epidemiology, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Nicholas MancusoDepartment of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA; Center for Genetic Epidemiology, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Charleston W K ChiangDepartment of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA; Center for Genetic Epidemiology, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Michael D EdgeDepartment of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA. Electronic address: edgem@usc.edu.
University of Southern California · US

Funding

Multiethnic Cohort Study of Diet and CancerR37CA054281 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI KOLONEL, LAURENCE N. · 2003 to 2012
$23.2M
VALIDATION OF A DIET HISTORY METHOD FOR EPIDEMIOLOGIC STUDIES OF CANCERP01CA033619 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI KOLONEL, LAURENCE N. · 1985 to 2010
$18.5M
Characterizing Genetic Susceptibility to Breast and Prostate Cancer; the BPC3U01CA098758 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HENDERSON, BRIAN E · 2003 to 2010
$11.0M
A Genome-wide Association Study of Prostate Cancer in African AmericansU01CA136792 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HENDERSON, BRIAN E · 2009 to 2011
$9.4M
Epidemiology of Putative Causal Variants in the Multiethnic CohortU01HG004802 · NHGRI · UNIVERSITY OF HAWAII AT MANOA · PI LE MARCHAND, LOIC · 2008 to 2012
$8.4M
NHGRI EpiGenVar Coordinating CenterU01HG004801 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI MATISE, TARA C. · 2008 to 2012
$4.4M
Leveraging the Evolutionary History to Improve Identification of Trait-Associated Alleles and Risk Stratification Models in Native HawaiiansR01HG011646 · NHGRI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Charleston Chiang · 2022 to 2026
$4.0M
Characterizing the evolutionary architecture of complex disease within and across diverse populationsR01HG012133 · NHGRI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI MANCUSO, NICHOLAS · 2021 to 2025
$3.6M
Traits on trees: Population genomics for understanding complex phenotypesR35GM137758 · NIGMS · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Michael Donald Edge · 2020 to 2026
$2.5M
An evolutionary framework to elucidate and interpret the genetic architecture of complex traits in diverse populations - diversity supplementR35GM142783 · NIGMS · UNIVERSITY OF SOUTHERN CALIFORNIA · PI CHIANG, CHARLESTON · 2021 to 2025
$2.2M
A genome-wide genealogical framework for statistical and population genetic analysisR01HG012605 · NHGRI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Charleston Chiang · 2023 to 2026
$2.1M
Genomic resources and references for genetic investigation of an understudied populationF31HG012159 · NHGRI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI DINH, BRYAN LY · 2021 to 2024
$143k
NCI NIH HHS P01 CA033619NCI NIH HHS R37 CA054281NCI NIH HHS U01 CA098758NCI NIH HHS U01 CA136792NHGRI NIH HHS F31 HG012159NHGRI NIH HHS R01 HG011646NHGRI NIH HHS R01 HG012133NHGRI NIH HHS R01 HG012605NHGRI NIH HHS U01 HG004801NHGRI NIH HHS U01 HG004802NIGMS NIH HHS R35 GM137758NIGMS NIH HHS R35 GM142783
6 · The paper itself

Abstract

Understanding the genetic basis of complex phenotypes is a central pursuit of genetics. Genome-wide association studies (GWASs) are a powerful way to find genetic loci associated with phenotypes. GWASs are widely and successfully used, but they face challenges related to the fact that variants are tested for association with a phenotype independently, whereas in reality variants at different sites are correlated because of their shared evolutionary history. One way to model this shared history is through the ancestral recombination graph (ARG), which encodes a series of local coalescent trees. Recent computational and methodological breakthroughs have made it feasible to estimate approximate ARGs from large-scale samples. Here, we explore the potential of an ARG-based approach to quantitative-trait locus (QTL) mapping, echoing existing variance-components approaches. We propose a framework that relies on the conditional expectation of a local genetic relatedness matrix (local eGRM) given the ARG. Simulations show that our method is especially beneficial for finding QTLs in the presence of allelic heterogeneity. By framing QTL mapping in terms of the estimated ARG, we can also facilitate the detection of QTLs in understudied populations. We use local eGRM to analyze two chromosomes containing known body size loci in a sample of Native Hawaiians. Our investigations can provide intuition about the benefits of using estimated ARGs in population- and statistical-genetic methods in general.

Indexed as

Genetics, PopulationGenome-Wide Association StudyQuantitative Trait LociChromosome MappingHumansModels, GeneticNative Hawaiian or Pacific IslanderPhenotypeancestral recombination graphcoalescentlinear mixed modelsQTL mappingquantitative traits

Identifiers

PMID38065072
PMCPMC10716520
OpenAlexW4389427563

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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.