Evidence map›Paper›PMID 26473021›Full record

ArticleStatistics in biosciences

Genotype-Based Score Test for Association Testing in Families.

Hae-Won Uh, Marian Beekman, Ingrid Meulenbelt, Jeanine J Houwing-Duistermaat

Abstract read
In one paragraph

Article in Statistics in biosciences. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
–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

2 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. 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

4 authors.

Hae-Won UhDepartment of Medical Statistics and Bioinformatics, Leiden University Medical Center, S-5-P, P.O. Box 9600, 2300 RC Leiden, The Netherlands.
Marian BeekmanDepartment of Molecular Epidemiology, Leiden University Medical Center, S-5-P, P.O. Box 9600, 2300 RC Leiden, The Netherlands.
Ingrid MeulenbeltDepartment of Molecular Epidemiology, Leiden University Medical Center, S-5-P, P.O. Box 9600, 2300 RC Leiden, The Netherlands.
Jeanine J Houwing-DuistermaatDepartment of Medical Statistics and Bioinformatics, Leiden University Medical Center, S-5-P, P.O. Box 9600, 2300 RC Leiden, The Netherlands.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The multiplex-case and control design in which multiple cases are sampled from the same family is considered. In such studies phenotype information of the un-genotyped relatives might be available. We intend to use additional family information when performing genetic association tests. A score test is revisited to provide a flexible framework to accommodate various genetic models and to improve power of the association test by adding available family information. The proposed test accounts for correlations induced by multiple cases from the same pedigree, directly deals with X-linked SNPs in mixed-sex-related samples, and incorporates additional phenotypic information such as the number of (un-genotyped) siblings and parents with similar symptoms by assigning the weights to (genotyped) multiplex cases. In addition, the score test directly incorporates posterior probabilities of imputed genotypes, which leads to an efficiency measure that reflects imputation uncertainty on the test conducted. The proposed test is applied to real applications for illustration. Its efficiency is demonstrated via simulations.

Indexed as

Ascertained familial casesimputation uncertaintyIncorporation of additional family informationMultiplex-case and control designScore testX-linked SNPs

Identifiers

PMID26473021
PMCPMC4596911

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Registered trials

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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.