Evidence map›Paper›PMID 12111667›Full record

ArticleAmerican journal of human genetics2002

Powerful regression-based quantitative-trait linkage analysis of general pedigrees.

Pak C Sham, Shaun Purcell, Stacey S Cherny, Gonçalo R Abecasis

Abstract read
In one paragraph

Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 120 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
120citing 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

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

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  20. Genome-wide linkage analysis of human auditory cortical activation suggests distinct loci on chromosomes 2, 3, and 8.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2012
    Article

60 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors.

Pak C ShamSGDP Research Centre, Institute of Psychiatry, King's College, Denmark Hill, London SE5 8AF, United Kingdom. p.sham@iop.kcl.ac.uk
Shaun Purcell
Stacey S Cherny
Gonçalo R Abecasis

Funding

DESIGN AND ANALYSIS OF HUMAN GENE MAPPING STUDIESR01HG000376 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL L · 1993 to 2016
$5.5M
VARIANCE COMPONENTS MODELS FOR MAPPING QTLSR01EY012562 · NEI · UNIVERSITY OF COLORADO AT BOULDER · PI HEWITT, JOHN K · 1999 to 2006
$2.1M
DESIGN ISSUES IN GENETIC LINKAGE AND SEGREGATION STUDIESR29HG000376 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL · 1990 to 1992
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NEI NIH HHS EY 12562NEI NIH HHS R01 EY012562NHGRI NIH HHS HG 0376NHGRI NIH HHS R01 HG000376
6 · The paper itself

Abstract

We present a new method of quantitative-trait linkage analysis that combines the simplicity and robustness of regression-based methods and the generality and greater power of variance-components models. The new method is based on a regression of estimated identity-by-descent (IBD) sharing between relative pairs on the squared sums and squared differences of trait values of the relative pairs. The method is applicable to pedigrees of arbitrary structure and to pedigrees selected on the basis of trait value, provided that population parameters of the trait distribution can be correctly specified. Ambiguous IBD sharing (due to incomplete marker information) can be accommodated in the method by appropriate specification of the variance-covariance matrix of IBD sharing between relative pairs. We have implemented this regression-based method and have performed simulation studies to assess, under a range of conditions, estimation accuracy, type I error rate, and power. For normally distributed traits and in large samples, the method is found to give the correct type I error rate and an unbiased estimate of the proportion of trait variance accounted for by the additive effects of the locus-although, in cases where asymptotic theory is doubtful, significance levels should be checked by simulations. In large sibships, the new method is slightly more powerful than variance-components models. The proposed method provides a practical and powerful tool for the linkage analysis of quantitative traits.

Indexed as

PedigreeQuantitative Trait, HeritableSoftware DesignChromosome MappingComputer SimulationFemaleHumansMaleRegression AnalysisStatistics, Nonparametric

Identifiers

PMID12111667
PMCPMC379157

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.