Evidence map›Paper›PMID 37348543›Full record

ArticleBioinformatics (Oxford, England)2023

Genetic fine-mapping from summary data using a nonlocal prior improves the detection of multiple causal variants.

Ville Karhunen, Ilkka Launonen, Marjo-Riitta Järvelin, Sylvain Sebert, Mikko J Sillanpää

Open access · goldAbstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.9field-weighted citation impact, top 13% 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

7 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
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

5 authors at 2 institutions in 2 countries.

Ville KarhunenResearch Unit of Mathematical Sciences, University of Oulu, Oulu, P.O.Box 8000, FI-90014, Finland.ORCID 0000-0001-6064-1588
Ilkka LaunonenResearch Unit of Mathematical Sciences, University of Oulu, Oulu, P.O.Box 8000, FI-90014, Finland.
Marjo-Riitta JärvelinResearch Unit of Population Health, University of Oulu, Oulu, Finland.
Sylvain SebertResearch Unit of Population Health, University of Oulu, Oulu, Finland.
Mikko J SillanpääResearch Unit of Mathematical Sciences, University of Oulu, Oulu, P.O.Box 8000, FI-90014, Finland.ORCID 0000-0003-2808-2768
University of Oulu · FIImperial College London · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

motivationGenome-wide association studies (GWAS) have been successful in identifying genomic loci associated with complex traits. Genetic fine-mapping aims to detect independent causal variants from the GWAS-identified loci, adjusting for linkage disequilibrium patterns.

resultsWe present "FiniMOM" (fine-mapping using a product inverse-moment prior), a novel Bayesian fine-mapping method for summarized genetic associations. For causal effects, the method uses a nonlocal inverse-moment prior, which is a natural prior distribution to model non-null effects in finite samples. A beta-binomial prior is set for the number of causal variants, with a parameterization that can be used to control for potential misspecifications in the linkage disequilibrium reference. The results of simulations studies aimed to mimic a typical GWAS on circulating protein levels show improved credible set coverage and power of the proposed method over current state-of-the-art fine-mapping method SuSiE, especially in the case of multiple causal variants within a locus. AVAILABILITY AND IMPLEMENTATION: https://vkarhune.github.io/finimom/.

Indexed as

Genome-Wide Association StudyGenomicsBayes TheoremChromosome MappingLinkage DisequilibriumPolymorphism, Single Nucleotide

Identifiers

PMID37348543
PMCPMC10326304
OpenAlexW4381611080

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.