Evidence map›Paper›PMID 34620077›Full record

ArticleBMC bioinformatics2021

Wavelet Screening: a novel approach to analyzing GWAS data.

William R P Denault, Håkon K Gjessing, Julius Juodakis, Bo Jacobsson, Astanand Jugessur

Open access · goldAbstract read
In one paragraph

Article in BMC bioinformatics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.5field-weighted citation impact, top 29% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

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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

5 authors at 1 institution in 2 countries.

William R P DenaultDepartment of Genetics and Bioinformatics, Norwegian Institute of Public Health, Oslo, Norway. william.denault@gmail.com.ORCID http://orcid.org/0000-0002-9690-3890
Håkon K GjessingCentre for Fertility and Health, Norwegian Institute of Public Health, Oslo, Norway.
Julius JuodakisDepartment of Genetics and Bioinformatics, Norwegian Institute of Public Health, Oslo, Norway.
Bo JacobssonDepartment of Genetics and Bioinformatics, Norwegian Institute of Public Health, Oslo, Norway.
Astanand JugessurDepartment of Genetics and Bioinformatics, Norwegian Institute of Public Health, Oslo, Norway.
Norwegian Institute of Public Health · NO

Funding

Bergen Medical Research Foundation 807191Norges Forskningsråd 249779Norges Forskningsråd 262700
6 · The paper itself

Abstract

backgroundTraditional methods for single-variant genome-wide association study (GWAS) incur a substantial multiple-testing burden because of the need to test for associations with a vast number of single-nucleotide polymorphisms (SNPs) simultaneously. Further, by ignoring more complex joint effects of nearby SNPs within a given region, these methods fail to consider the genomic context of an association with the outcome.

resultsTo address these shortcomings, we present a more powerful method for GWAS, coined 'Wavelet Screening' (WS), that greatly reduces the number of tests to be performed. This is achieved through the use of a sliding-window approach based on wavelets to sequentially screen the entire genome for associations. Wavelets are oscillatory functions that are useful for analyzing the local frequency and time behavior of signals. The signals can then be divided into different scale components and analyzed separately. In the current setting, we consider a sequence of SNPs as a genetic signal, and for each screened region, we transform the genetic signal into the wavelet space. The null and alternative hypotheses are modeled using the posterior distribution of the wavelet coefficients. WS is enhanced by using additional information from the regression coefficients and by taking advantage of the pyramidal structure of wavelets. When faced with more complex genetic signals than single-SNP associations, we show via simulations that WS provides a substantial gain in power compared to both the traditional GWAS modeling and another popular regional association test called SNP-set (Sequence) Kernel Association Test (SKAT). To demonstrate feasibility, we applied WS to a large Norwegian cohort (N=8006) with genotypes and information available on gestational duration.

conclusionsWS is a powerful and versatile approach to analyzing whole-genome data and lends itself easily to investigating various omics data types. Given its broader focus on the genomic context of an association, WS may provide additional insight into trait etiology by revealing genes and loci that might have been missed by previous efforts.

Indexed as

Genome-Wide Association StudyGenomicsGenotypeHumansPhenotypePolymorphism, Single NucleotideGWASMultiple testingPolygenic associationSNPWavelet regression

Identifiers

PMID34620077
PMCPMC8499521
OpenAlexW3204262514

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.