Evidence map›Paper›PMID 24496013›Full record

ArticleGenetics2014

Enhancing the power to detect low-frequency variants in genome-wide screens.

Chang-Yun Lin, Guan Xing, Hung-Chih Ku, Robert C Elston, Chao Xing

Abstract read
In one paragraph

Article in Genetics, 2014. 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
–field-weighted citation impact
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.

  1. Article
  2. Article
  3. Weighted False Discovery Rate Control in Large-Scale Multiple Testing.Journal of the American Statistical Association · 2018
    Article
  4. 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.

Chang-Yun LinMcDermott Center of Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas 75390.
Guan Xing
Hung-Chih Ku
Robert C Elston
Chao Xing

Funding

Role of Mitochondrial CYP2E1 in Chemical Exposure-Driven NeurodegenerationF32ES027306 · NIEHS · DUKE UNIVERSITY · PI HARTMAN, JESSICA HELENE · 2016 to 2018
$171k
NIEHS NIH HHS 27306C0004
6 · The paper itself

Abstract

In genetic association studies a conventional test statistic is proportional to the correlation coefficient between the trait and the variant, with the result that it lacks power to detect association for low-frequency variants. Considering the link between the conventional association test statistics and the linkage disequilibrium measure r(2), we propose a test statistic analogous to the standardized linkage disequilibrium D' to increase the power of detecting association for low-frequency variants. By both simulation and real data analysis we show that the proposed D' test is more powerful than the conventional methods for detecting association for low-frequency variants in a genome-wide setting. The optimal coding strategy for the D' test and its asymptotic properties are also investigated. In summary, we advocate using the D' test in a dominant model as a complementary approach to enhancing the power of detecting association for low-frequency variants with moderate to large effect sizes in case-control genome-wide association studies.

Indexed as

AlgorithmsComputational BiologyGene FrequencyGenetic VariationGenomeGenome-Wide Association StudyLinkage DisequilibriumModels, GeneticModels, StatisticalPolymorphism, Single Nucleotidecase-control studygenome-wide screenlinkage disequilibriumlow-frequency variants

Identifiers

PMID24496013
PMCPMC3982702

What OpenQuestion holds

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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.