Evidence map›Paper›PMID 31548641›Full record

ArticleScientific reports2019

Model-based clustering for identifying disease-associated SNPs in case-control genome-wide association studies.

Yan Xu, Li Xing, Jessica Su, Xuekui Zhang, Weiliang Qiu

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2019. 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
1.1field-weighted citation impact, top 20% 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, 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

5 authors at 3 institutions in 2 countries.

Yan XuDepartment of Mathematics and Statistics, University of Victoria, Victoria, BC, Canada.
Li XingDepartment of Mathematics and Statistics, University of Saskatchewan, Saskatoon, SK, Canada.
Jessica SuChanning Division of Network Medicine, Brigham and Women's Hospital/Harvard Medical School, Boston, MA, USA.
Xuekui ZhangDepartment of Mathematics and Statistics, University of Victoria, Victoria, BC, Canada. Xuekui@UVic.ca.ORCID http://orcid.org/0000-0003-4728-2343
Weiliang QiuChanning Division of Network Medicine, Brigham and Women's Hospital/Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-9155-6957
Brigham and Women's Hospital · USUniversity of Victoria · CAUniversity of Saskatchewan · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genome-wide association studies (GWASs) aim to detect genetic risk factors for complex human diseases by identifying disease-associated single-nucleotide polymorphisms (SNPs). The traditional SNP-wise approach along with multiple testing adjustment is over-conservative and lack of power in many GWASs. In this article, we proposed a model-based clustering method that transforms the challenging high-dimension-small-sample-size problem to low-dimension-large-sample-size problem and borrows information across SNPs by grouping SNPs into three clusters. We pre-specify the patterns of clusters by minor allele frequencies of SNPs between cases and controls, and enforce the patterns with prior distributions. In the simulation studies our proposed novel model outperforms traditional SNP-wise approach by showing better controls of false discovery rate (FDR) and higher sensitivity. We re-analyzed two real studies to identifying SNPs associated with severe bortezomib-induced peripheral neuropathy (BiPN) in patients with multiple myeloma (MM). The original analysis in the literature failed to identify SNPs after FDR adjustment. Our proposed method not only detected the reported SNPs after FDR adjustment but also discovered a novel BiPN-associated SNP rs4351714 that has been reported to be related to MM in another study.

Indexed as

Genetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeModels, GeneticPolymorphism, Single NucleotideCase-Control StudiesCluster AnalysisGene FrequencyHumans

Identifiers

PMID31548641
PMCPMC6757104
OpenAlexW2974319784

What Socratic 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 Socratic graph.