Evidence map›Paper›PMID 31888606›Full record

ArticleBMC medical genomics2019

Region-based interaction detection in genome-wide case-control studies.

Sen Zhang, Wei Jiang, Ronald Cw Ma, Weichuan Yu

Open access · goldAbstract read
In one paragraph

Article in BMC medical genomics, 2019. 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
0.9field-weighted citation impact, top 21% 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, 9 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

4 authors at 2 institutions in 1 country.

Sen ZhangDepartment of Chemical and Biological Engineering, The Hong Kong University of Science and Technology,, Kowloon, Hong Kong, China.
Wei JiangDepartment of Electronic and Computer Engineering, The Hong Kong University of Science and Technology, Kowloon, Hong Kong, China.
Ronald Cw MaDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Shatin, Hong Kong, China.
Weichuan YuDepartment of Electronic and Computer Engineering, The Hong Kong University of Science and Technology, Kowloon, Hong Kong, China. eeyu@ust.hk.ORCID 0000-0002-5510-6916
Hong Kong University of Science and Technology · HKChinese University of Hong Kong · HK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundIn genome-wide association study (GWAS), conventional interaction detection methods such as BOOST are mostly based on SNP-SNP interactions. Although single nucleotides are the building blocks of human genome, single nucleotide polymorphisms (SNPs) are not necessarily the smallest functional unit for complex phenotypes. Region-based strategies have been proved to be successful in studies aiming at marginal effects.

methodsWe propose a novel region-region interaction detection method named RRIntCC (region-region interaction detection for case-control studies). RRIntCC uses the correlations between individual SNP-SNP interactions based on linkage disequilibrium (LD) contrast test.

resultsSimulation experiments showed that our method can achieve a higher power than conventional SNP-based methods with similar type-I-error rates. When applied to two real datasets, RRIntCC was able to find several significant regions, while BOOST failed to identify any significant results. The source code and the sample data of RRIntCC are available at http://bioinformatics.ust.hk/RRIntCC.html.

conclusionIn this paper, a new region-based interaction detection method with better performance than SNP-based interaction detection methods has been proposed.

Indexed as

Genome-Wide Association StudyCase-Control StudiesDatabases, GeneticGenome, HumanHumansModels, GeneticPolymorphism, Single NucleotideGWASLD contrast testRegion-based methodStatistical interaction detection

Identifiers

PMID31888606
PMCPMC6936067
OpenAlexW2998298484

What OpenQuestion holds

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LicenceCC BY
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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.