Evidence map›Paper›PMID 27896990›Full record

ArticlePacific Symposium on Biocomputing. Pacific Symposium on Biocomputing2017

A POWERFUL METHOD FOR INCLUDING GENOTYPE UNCERTAINTY IN TESTS OF HARDY-WEINBERG EQUILIBRIUM.

Andrew Beck, Alexander Luedtke, Keli Liu, Nathan Tintle

Abstract read
In one paragraph

Article in Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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.

Andrew BeckDepartment of Biostatistics, University of Michigan, Ann Arbor, MI, 48109, USA, beckandy@umich.edu.
Alexander Luedtke
Keli Liu
Nathan Tintle

Funding

University of Michigan Training Program in Genomic ScienceT32HG000040 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Sebastian Zoellner · 1995 to 2026
$16.4M
Identifying Genes for Type 2 Diabetes: FUSIONU01DK062370 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL L, SCOTT, LAURA J. · 2009 to 2021
$11.6M
Analyzing the behavior and interpreting the results of gene based tests of rare variant associationR15HG006915 · NHGRI · DORDT COLLEGE · PI TINTLE, NATHAN L · 2012 to 2020
$1.3M
Evaluating the Cost Effectiveness of Alternative Sample Designs for Genetic AssocR15HG004543 · NHGRI · HOPE COLLEGE · PI TINTLE, NATHAN L · 2008 to 2011
$288k
NHGRI NIH HHS R15 HG004543NHGRI NIH HHS R15 HG006915NHGRI NIH HHS T32 HG000040NIDDK NIH HHS U01 DK062370
6 · The paper itself

Abstract

The use of posterior probabilities to summarize genotype uncertainty is pervasive across genotype, sequencing and imputation platforms. Prior work in many contexts has shown the utility of incorporating genotype uncertainty (posterior probabilities) in downstream statistical tests. Typical approaches to incorporating genotype uncertainty when testing Hardy-Weinberg equilibrium tend to lack calibration in the type I error rate, especially as genotype uncertainty increases. We propose a new approach in the spirit of genomic control that properly calibrates the type I error rate, while yielding improved power to detect deviations from Hardy-Weinberg Equilibrium. We demonstrate the improved performance of our method on both simulated and real genotypes.

Indexed as

GenotypeModels, GeneticComputational BiologyComputer SimulationGene FrequencyGenome, HumanHumansLikelihood FunctionsLinkage DisequilibriumModels, StatisticalPolymorphism, Single NucleotideProbabilityUncertainty

Identifiers

PMID27896990
PMCPMC5149397

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.