Evidence map›Paper›PMID 35853082›Full record

ArticlePLoS genetics2022

Fine-mapping from summary data with the "Sum of Single Effects" model.

Yuxin Zou, Peter Carbonetto, Gao Wang, Matthew Stephens

Abstract read
In one paragraph

Article in PLoS genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 272 papers, 16 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
272citing papers in PubMed, 16 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

272 citing papers in PubMed, 16 syntheses or guidelines pooled it.

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212 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

4 authors.

Yuxin ZouDepartment of Statistics, University of Chicago, Chicago, Illinois, United States of America.ORCID 0000-0001-9816-5847
Peter CarbonettoDepartment of Human Genetics, University of Chicago, Chicago, Illinois, United States of America.ORCID 0000-0003-1144-6780
Gao WangDepartment of Neurology and the Gertrude. H. Sergievsky Center, Columbia University, New York, New York, United States of America.ORCID 0000-0001-9336-402X
Matthew StephensDepartment of Statistics, University of Chicago, Chicago, Illinois, United States of America.ORCID 0000-0001-5397-9257

Funding

Alzheimer variants: Propagation of shared functional changes across cellular networksU01AG072572 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI DE JAGER, PHILIP L, ST GEORGE-HYSLOP, PETER HENRY · 2021 to 2025
$8.5M
Genome analysis: statistical methods and applicationsR01HG002585 · NHGRI · UNIVERSITY OF WASHINGTON · PI MATTHEW STEPHENS · 2002 to 2026
$8.4M
Medical Research Council MC_PC_17228Medical Research Council MC_QA137853NHGRI NIH HHS R01 HG002585NIA NIH HHS U01 AG072572
6 · The paper itself

Abstract

In recent work, Wang et al introduced the "Sum of Single Effects" (SuSiE) model, and showed that it provides a simple and efficient approach to fine-mapping genetic variants from individual-level data. Here we present new methods for fitting the SuSiE model to summary data, for example to single-SNP z-scores from an association study and linkage disequilibrium (LD) values estimated from a suitable reference panel. To develop these new methods, we first describe a simple, generic strategy for extending any individual-level data method to deal with summary data. The key idea is to replace the usual regression likelihood with an analogous likelihood based on summary data. We show that existing fine-mapping methods such as FINEMAP and CAVIAR also (implicitly) use this strategy, but in different ways, and so this provides a common framework for understanding different methods for fine-mapping. We investigate other common practical issues in fine-mapping with summary data, including problems caused by inconsistencies between the z-scores and LD estimates, and we develop diagnostics to identify these inconsistencies. We also present a new refinement procedure that improves model fits in some data sets, and hence improves overall reliability of the SuSiE fine-mapping results. Detailed evaluations of fine-mapping methods in a range of simulated data sets show that SuSiE applied to summary data is competitive, in both speed and accuracy, with the best available fine-mapping methods for summary data.

Indexed as

Models, GeneticPolymorphism, Single NucleotideLikelihood FunctionsLinkage DisequilibriumReproducibility of Results

Identifiers

PMID35853082
PMCPMC9337707

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

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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.