Evidence map›Paper›PMID 27980648›Full record

ArticleBMC proceedings2016

Comparing strategies for combined testing of rare and common variants in whole sequence and genome-wide genotype data.

Dörthe Malzahn, Stefanie Friedrichs, Heike Bickeböller

Abstract read
In one paragraph

Article in BMC proceedings, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

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

  1. Pooled it
  2. Article
  3. Pathway-Based Kernel Boosting for the Analysis of Genome-Wide Association Studies.Computational and mathematical methods in medicine · 2017
    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

3 authors.

Dörthe MalzahnDepartment of Genetic Epidemiology, University Medical Center, Georg-August University Göttingen, Humboldtallee 32, 37073 Göttingen, Germany.
Stefanie FriedrichsDepartment of Genetic Epidemiology, University Medical Center, Georg-August University Göttingen, Humboldtallee 32, 37073 Göttingen, Germany.
Heike BickeböllerDepartment of Genetic Epidemiology, University Medical Center, Georg-August University Göttingen, Humboldtallee 32, 37073 Göttingen, Germany.

Funding

GENETIC ANALYSIS OF COMMON DISEASES: AN EVALUATIONR01GM031575 · NIGMS · UNIVERSITY OF TEXAS RIO GRANDE VALLEY · PI ALMASY, LAURA A. · 1985 to 2016
$7.8M
NIGMS NIH HHS R01 GM031575
6 · The paper itself

Abstract

We used our extension of the kernel score test to family data to analyze real and simulated baseline systolic blood pressure in extended pedigrees. We compared the power for different kernels and for different weightings of genetic markers. Moreover, we compared the power of rare and common markers with 3 strategies for joint testing and on marker panels with different densities. Marker weights had much greater influence on power than the kernel chosen. Inverse minor allele frequency weights often increased power on common markers but could decrease power on rare markers. Furthermore, defining the gene region based on linkage disequilibrium blocks often yielded robust power of joint tests of rare and common markers.

Identifiers

PMID27980648
PMCPMC5133495

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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.