Evidence map›Paper›PMID 27592708›Full record

ArticleBioinformatics (Oxford, England)2017

Gene- and pathway-based association tests for multiple traits with GWAS summary statistics.

Il-Youp Kwak, Wei Pan

Open access · bronzeAbstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed, 4 pooled it
6.9field-weighted citation impact, top 3% 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

28 citing papers in PubMed, 4 syntheses or guidelines pooled it, 54 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

2 authors at 1 institution in 1 country.

Il-Youp KwakDivision of Biostatistics, School of Public Health, University of Minnesota, Minneapolis, MN, USA.
Wei PanDivision of Biostatistics, School of Public Health, University of Minnesota, Minneapolis, MN, USA.
University of Minnesota · US

Funding

Association analysis of rare variants with sequencing dataR01HL116720 · NHLBI · UNIVERSITY OF MINNESOTA · PI PAN, WEI, WEI, PENG · 2013 to 2020
$3.3M
Statistical Methods for Genomic DataR01GM113250 · NIGMS · UNIVERSITY OF MINNESOTA · PI PAN, WEI · 2014 to 2017
$702k
NHLBI NIH HHS R01 HL116720NIGMS NIH HHS R01 GM113250
6 · The paper itself

Abstract

To identify novel genetic variants associated with complex traits and to shed new insights on underlying biology, in addition to the most popular single SNP-single trait association analysis, it would be useful to explore multiple correlated (intermediate) traits at the gene- or pathway-level by mining existing single GWAS or meta-analyzed GWAS data. For this purpose, we present an adaptive gene-based test and a pathway-based test for association analysis of multiple traits with GWAS summary statistics. The proposed tests are adaptive at both the SNP- and trait-levels; that is, they account for possibly varying association patterns (e.g. signal sparsity levels) across SNPs and traits, thus maintaining high power across a wide range of situations. Furthermore, the proposed methods are general: they can be applied to mixed types of traits, and to Z-statistics or P-values as summary statistics obtained from either a single GWAS or a meta-analysis of multiple GWAS. Our numerical studies with simulated and real data demonstrated the promising performance of the proposed methods. AVAILABILITY AND IMPLEMENTATION: The methods are implemented in R package aSPU, freely and publicly available at: https://cran.r-project.org/web/packages/aSPU/ CONTACT: weip@biostat.umn.eduSupplementary information: Supplementary data are available at Bioinformatics online.

Indexed as

GenesGenetic VariationSoftwareBiostatisticsGenome-Wide Association StudyMetabolic Networks and PathwaysPolymorphism, Single Nucleotide

Identifiers

PMID27592708
PMCPMC5198520
OpenAlexW2515217061

What OpenQuestion holds

Textmetadata
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.