Evidence map›Paper›PMID 32203469›Full record

ArticleNature genetics2020

Evaluating and improving heritability models using summary statistics.

Doug Speed, John Holmes, David J Balding

Abstract read
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In one paragraph

Article in Nature genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 129 papers, 13 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
129citing papers in PubMed, 13 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

129 citing papers in PubMed, 13 syntheses or guidelines pooled it.

  1. Genome-wide meta-analysis with 1,590,596 individuals identifies 12 novel risk loci for systemic lupus erythematosus.Mammalian genome : official journal of the International Mammalian Genome Society · 2026
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69 more citing papers are in PubMed but not listed here.

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.

Doug SpeedAarhus Institute of Advanced Studies, Aarhus University, Aarhus, Denmark. doug@aias.au.dk.ORCID http://orcid.org/0000-0002-0096-9765
John HolmesMelbourne Integrative Genomics, School of BioSciences and School of Mathematics & Statistics, University of Melbourne, Parkville, Victoria, Australia.
David J BaldingUCL Genetics Institute, University College London, London, UK.ORCID http://orcid.org/0000-0002-1480-6115

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

There is currently much debate regarding the best model for how heritability varies across the genome. The authors of GCTA recommend the GCTA-LDMS-I model, the authors of LD Score Regression recommend the Baseline LD model, and we have recommended the LDAK model. Here we provide a statistical framework for assessing heritability models using summary statistics from genome-wide association studies. Based on 31 studies of complex human traits (average sample size 136,000), we show that the Baseline LD model is more realistic than other existing heritability models, but that it can be improved by incorporating features from the LDAK model. Our framework also provides a method for estimating the selection-related parameter α from summary statistics. We find strong evidence (P < 1 × 10

Indexed as

Genome-Wide Association StudyGenotypeHumansInheritance PatternsLinkage DisequilibriumModels, GeneticMultifactorial InheritancePhenotypePolymorphism, Single NucleotideQuantitative Trait, HeritableSample SizeSoftware

Identifiers

What OpenQuestion holds

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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.