Evidence map›Paper›PMID 28475861›Full record

ArticleAmerican journal of human genetics2017

Widespread Allelic Heterogeneity in Complex Traits.

Farhad Hormozdiari, Anthony Zhu, Gleb Kichaev, Chelsea J-T Ju, Ayellet V Segrè, Jong Wha J Joo, Hyejung Won, Sriram Sankararaman, Bogdan Pasaniuc, Sagiv Shifman and 1 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
59citing papers in PubMed, 3 pooled it
12.4field-weighted citation impact, top 1% 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

59 citing papers in PubMed, 3 syntheses or guidelines pooled it, 106 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. CommonGenome research · 2025
    Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Review
  16. Article
  17. Article
  18. Article
  19. Article
  20. 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

11 authors at 5 institutions in 3 countries.

Farhad HormozdiariDepartment of Computer Science, University of California, Los Angeles, CA 90095, USA; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.
Anthony ZhuDepartment of Computer Science, University of California, Los Angeles, CA 90095, USA.
Gleb KichaevBioinformatics IDP, University of California, Los Angeles, CA 90095, USA.
Chelsea J-T JuDepartment of Computer Science, University of California, Los Angeles, CA 90095, USA.
Ayellet V SegrèCancer Program, The Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA 02142, USA.
Jong Wha J JooDepartment of Computer Science, University of California, Los Angeles, CA 90095, USA; Department of Computer Science Engineering, Dongguk University-Seoul, 04620 Seoul, South Korea.
Hyejung WonNeurogenetics Program, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Sriram SankararamanDepartment of Computer Science, University of California, Los Angeles, CA 90095, USA; Department of Human Genetics, University of California, Los Angeles, CA 90095, USA.
Bogdan PasaniucDepartment of Human Genetics, University of California, Los Angeles, CA 90095, USA; Department of Pathology and Laboratory Medicine, University of California, Los Angeles, CA 90095, USA.
Sagiv ShifmanDepartment of Genetics, The Institute of Life Sciences, The Hebrew University of Jerusalem, Jerusalem 91904, Israel. Electronic address: sagiv@vms.huji.ac.il.
Eleazar EskinDepartment of Computer Science, University of California, Los Angeles, CA 90095, USA; Department of Human Genetics, University of California, Los Angeles, CA 90095, USA. Electronic address: eeskin@cs.ucla.edu.
University of California, Los Angeles · USBroad Institute · USDongguk University · KRHarvard University · USHebrew University of Jerusalem · IL

Funding

ULTRASTRUCTURE OF THE INTIMA IN EARLY LESION FORMATIONP01HL030568 · NHLBI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI FOGELMAN, ALAN M · 1985 to 2019
$55.2M
Systems genomics of metabolic syndrome traitsP01HL028481 · NHLBI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI LUSIS, ALDONS JAKE · 1985 to 2019
$50.2M
Substance Abuse & Behavioral Disinhibition: Integrating Genes & EnvironmentU01DA024417 · NIDA · UNIVERSITY OF MINNESOTA · PI IACONO, WILLIAM G. · 2007 to 2010
$10.8M
Training U54EB020403 · NIBIB · UNIVERSITY OF SOUTHERN CALIFORNIA · PI THOMPSON, PAUL M · 2014 to 2018
$10.1M
Integrative Center for Neurogenetics and Neurogenomics - OverallP30NS062691 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI COPPOLA, GIOVANNI · 2009 to 2018
$7.4M
INTEGRATIVE GENETIC APPROACHES TO GENE-AIR POLLUTION INTERACTIONS IN ASTHMAR01ES021801 · NIEHS · UNIVERSITY OF SOUTHERN CALIFORNIA · PI AKBARI, OMID, ALLAYEE, HOOMAN · 2012 to 2016
$3.9M
An integrated molecular approach to understand variation in iron metabolismR01GM083198 · NIGMS · UNIVERSITY OF FLORIDA · PI VULPE, CHRISTOPHER D · 2012 to 2015
$2.7M
Genetic Regulation of Gene Expression and its Impact on Phenotypes - SupplementR01MH101782 · NIMH · STANFORD UNIVERSITY · PI SABATTI, CHIARA · 2013 to 2016
$1.3M
Correcting for Population Structure in Gene-by-Environment Interaction StudiesR01ES022282 · NIEHS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ESKIN, ELEAZAR · 2013 to 2015
$1.2M
Discovering the Genetic Basis of HypertensionK25HL080079 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ESKIN, ELEAZAR · 2006 to 2010
$685k
Statistical methods to infer structure and impact of ancient admixtureR00GM111744 · NIGMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI SANKARARAMAN, SRIRAM · 2016 to 2017
$498k
Biomedical Big Data Training GrantT32CA201160 · NCI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI PELLEGRINI, MATTEO · 2015 to 2015
$264k
NCI NIH HHS T32 CA201160NHLBI NIH HHS HHSN268201000029CNHLBI NIH HHS K25 HL080079NHLBI NIH HHS P01 HL028481NHLBI NIH HHS P01 HL030568NIBIB NIH HHS U54 EB020403NIDA NIH HHS U01 DA024417NIEHS NIH HHS R01 ES021801NIEHS NIH HHS R01 ES022282NIGMS NIH HHS R00 GM111744NIGMS NIH HHS R01 GM083198NIMH NIH HHS K99 MH113823NIMH NIH HHS R01 MH101782NINDS NIH HHS P30 NS062691
6 · The paper itself

Abstract

Recent successes in genome-wide association studies (GWASs) make it possible to address important questions about the genetic architecture of complex traits, such as allele frequency and effect size. One lesser-known aspect of complex traits is the extent of allelic heterogeneity (AH) arising from multiple causal variants at a locus. We developed a computational method to infer the probability of AH and applied it to three GWASs and four expression quantitative trait loci (eQTL) datasets. We identified a total of 4,152 loci with strong evidence of AH. The proportion of all loci with identified AH is 4%-23% in eQTLs, 35% in GWASs of high-density lipoprotein (HDL), and 23% in GWASs of schizophrenia. For eQTLs, we observed a strong correlation between sample size and the proportion of loci with AH (R

Indexed as

AllelesGene FrequencyQuantitative Trait LociDatabases, GeneticGenetic Association StudiesHumansLinkage DisequilibriumModels, MolecularPhenotypeallelic heterogeneitycausal variantscomplex traitseQTLgene expression

Identifiers

PMID28475861
PMCPMC5420356
OpenAlexW2952934191

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.