Evidence map›Paper›PMID 19492982›Full record

ArticleStatistical applications in genetics and molecular biology2009

Incorporating duplicate genotype data into linear trend tests of genetic association: methods and cost-effectiveness.

Bryce Borchers, Marshall Brown, Brian McLellan, Airat Bekmetjev, Nathan L Tintle

Abstract read
In one paragraph

Article in Statistical applications in genetics and molecular biology, 2009. 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

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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

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3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

5 authors.

Bryce BorchersRose-Hulman Institute of Technology, USA. borcheb1@rose-hulman.edu
Marshall Brown
Brian McLellan
Airat Bekmetjev
Nathan L Tintle

Funding

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-HG004543NHGRI NIH HHS R15 HG006915
6 · The paper itself

Abstract

The genome-wide association (GWA) study is an increasingly popular way to attempt to identify the causal variants in human disease. Duplicate genotyping (or re-genotyping) a portion of the samples in a GWA study is common, though it is typical for these data to be ignored in subsequent tests of genetic association. We demonstrate a method for including duplicate genotype data in linear trend tests of genetic association which yields increased power. We also consider the cost-effectiveness of collecting duplicate genotype data and find that when the relative cost of genotyping to phenotyping and sample acquisition costs is less than or equal to the genotyping error rate it is more powerful to duplicate genotype the entire sample instead of spending the same money to increase the sample size. Duplicate genotyping is particularly cost-effective when SNP minor allele frequencies are low. Practical advice for the implementation of duplicate genotyping is provided. Free software is provided to compute asymptotic and permutation based tests of association using duplicate genotype data as well as to aid in the duplicate genotyping design decision.

Indexed as

Genetic Predisposition to DiseaseBipolar DisorderCase-Control StudiesComputer SimulationCost-Benefit AnalysisGenome-Wide Association StudyHealth Planning GuidelinesHumansLinear ModelsModels, GeneticSoftware

Identifiers

PMID19492982
PMCPMC2861316

What OpenQuestion holds

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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.