Evidence map›Paper›PMID 31358995›Full record

ArticleNature genetics2019

Accurate estimation of SNP-heritability from biobank-scale data irrespective of genetic architecture.

Kangcheng Hou, Kathryn S Burch, Arunabha Majumdar, Huwenbo Shi, Nicholas Mancuso, Yue Wu, Sriram Sankararaman, Bogdan Pasaniuc

Abstract read
In one paragraph

Article in Nature genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
57citing papers in PubMed, 1 pooled it
–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

57 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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  16. MULTISCALE ESTIMATION OF MORPHOMETRICITY FOR REVEALING NEUROANATOMICAL BASIS OF COGNITIVE TRAITS.Proceedings. IEEE International Symposium on Biomedical Imaging · 2024
    Article
  17. Article
  18. Estimating trans-ancestry genetic correlation with unbalanced data resources.Journal of the American Statistical Association · 2024
    Article
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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

8 authors.

Kangcheng HouDepartment of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Kathryn S BurchBioinformatics Interdepartmental Program, University of California, Los Angeles, Los Angeles, CA, USA. kathrynburch@ucla.edu.ORCID http://orcid.org/0000-0001-9624-2108
Arunabha MajumdarDepartment of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Huwenbo ShiBioinformatics Interdepartmental Program, University of California, Los Angeles, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0001-9886-877X
Nicholas MancusoDepartment of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0002-9352-5927
Yue WuDepartment of Computer Science, University of California, Los Angeles, Los Angeles, CA, USA.
Sriram SankararamanBioinformatics Interdepartmental Program, University of California, Los Angeles, Los Angeles, CA, USA.
Bogdan PasaniucDepartment of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA. pasaniuc@ucla.edu.ORCID http://orcid.org/0000-0002-0227-2056

Funding

Training Grant in Genomic Analysis and InterpretationT32HG002536 · NHGRI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Valerie A Arboleda, Harold Pimentel · 2002 to 2026
$8.6M
Methods for Genome-wide Association Studies in Admixed PopulationsR01HG006399 · NHGRI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI PRICE, ALKES L · 2011 to 2024
$6.3M
Joint genomic and statistical analyses of schizophrenia and bipolar to decipher genetic susceptibilityR01MH115676 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Roel A Ophoff, Bogdan Pasaniuc · 2018 to 2026
$5.9M
Training Grant in Neurobehavioral GeneticsT32NS048004 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BEARDEN, CARRIE E, OPHOFF, ROEL A · 2004 to 2025
$5.8M
Quantifying and Characterizing the shared genetic contribution to common cancersU01CA194393 · NCI · UNIVERSITY OF WASHINGTON · PI KRAFT, PETER, LINDSTROEM, SARA · 2015 to 2023
$3.0M
Training Grant in Neurobehavioral GeneticsT32MH073526 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BEARDEN, CARRIE E, GESCHWIND, DANIEL H · 2006 to 2020
$2.4M
Integrative approaches for mapping the genetic risk of complex traitsR01HG009120 · NHGRI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI PASANIUC, BOGDAN · 2017 to 2021
$2.3M
Statistical Models for Dissecting Human Population Admixture and its Role in Evolution and DiseaseR35GM125055 · NIGMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI SANKARARAMAN, SRIRAM · 2017 to 2021
$1.6M
Medical Research Council MC_PC_17228Medical Research Council MC_QA137853NCI NIH HHS U01 CA194393NHGRI NIH HHS R01 HG006399NHGRI NIH HHS R01 HG009120NHGRI NIH HHS T32 HG002536NIGMS NIH HHS R35 GM125055NIMH NIH HHS R01 MH115676NIMH NIH HHS T32 MH073526NINDS NIH HHS T32 NS048004
6 · The paper itself

Abstract

SNP-heritability is a fundamental quantity in the study of complex traits. Recent studies have shown that existing methods to estimate genome-wide SNP-heritability can yield biases when their assumptions are violated. While various approaches have been proposed to account for frequency- and linkage disequilibrium (LD)-dependent genetic architectures, it remains unclear which estimates reported in the literature are reliable. Here we show that genome-wide SNP-heritability can be accurately estimated from biobank-scale data irrespective of genetic architecture, without specifying a heritability model or partitioning SNPs by allele frequency and/or LD. We show analytically and through extensive simulations starting from real genotypes (UK Biobank, N = 337 K) that, unlike existing methods, our closed-form estimator is robust across a wide range of architectures. We provide estimates of SNP-heritability for 22 complex traits in the UK Biobank and show that, consistent with our results in simulations, existing biobank-scale methods yield estimates up to 30% different from our theoretically-justified approach.

Indexed as

Genome, HumanLinkage DisequilibriumModels, TheoreticalPolymorphism, Single NucleotideQuantitative Trait, HeritableBiological Specimen BanksGenome-Wide Association StudyHumansMultifactorial InheritancePhenotype

Identifiers

PMID31358995
PMCPMC6686906

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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.