Evidence map›Paper›PMID 35417677›Full record

ArticleAmerican journal of human genetics2022

A genealogical estimate of genetic relationships.

Caoqi Fan, Nicholas Mancuso, Charleston W K Chiang

Open access · greenAbstract read
In one paragraph

Article in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed
8.2field-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

34 citing papers in PubMed, 46 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. A Pandemic-Scale Ancestral Recombination Graph for SARS-CoV-2.bioRxiv : the preprint server for biology · 2025
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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

3 authors at 1 institution in 1 country.

Caoqi FanCenter for Genetic Epidemiology, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA. Electronic address: caoqifan@usc.edu.
Nicholas MancusoCenter for Genetic Epidemiology, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA; Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Charleston W K ChiangCenter for Genetic Epidemiology, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA. Electronic address: charleston.chiang@med.usc.edu.
University of Southern California · US

Funding

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
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
NHGRI NIH HHS R01 HG012133NIGMS NIH HHS R35 GM142783
6 · The paper itself

Abstract

The application of genetic relationships among individuals, characterized by a genetic relationship matrix (GRM), has far-reaching effects in human genetics. However, the current standard to calculate the GRM treats linked markers as independent and does not explicitly model the underlying genealogical history of the study sample. Here, we propose a coalescent-informed framework, namely the expected GRM (eGRM), to infer the expected relatedness between pairs of individuals given an ancestral recombination graph (ARG) of the sample. Through extensive simulations, we show that the eGRM is an unbiased estimate of latent pairwise genome-wide relatedness and is robust when computed with ARG inferred from incomplete genetic data. As a result, the eGRM better captures the structure of a population than the canonical GRM, even when using the same genetic information. More importantly, our framework allows a principled approach to estimate the eGRM at different time depths of the ARG, thereby revealing the time-varying nature of population structure in a sample. When applied to SNP array genotypes from a population sample from Northern and Eastern Finland, we find that clustering analysis with the eGRM reveals population structure driven by subpopulations that would not be apparent via the canonical GRM and that temporally the population model is consistent with recent divergence and expansion. Taken together, our proposed eGRM provides a robust tree-centric estimate of relatedness with wide application to genetic studies.

Indexed as

GenomeModels, GeneticFinlandGenetics, PopulationGenotypeHumansancestral recombination graphgenetic relationship matrixpopulation structure

Identifiers

PMID35417677
PMCPMC9118131
OpenAlexW4225568522

What OpenQuestion holds

Textmetadata
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.