Evidence map›Paper›PMID 10775523›Full record

ArticleAmerican journal of human genetics2000

Unbiased application of the transmission/disequilibrium test to multilocus haplotypes.

F Dudbridge, B P Koeleman, J A Todd, D G Clayton

Open access · bronzeAbstract read
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Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.

0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed
9.2field-weighted citation impact, top 2% of its field
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

37 citing papers in PubMed, 114 citations in OpenAlex.

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  6. Failure to confirm an association between Epsin 4 and schizophrenia in a Japanese population.Journal of neural transmission (Vienna, Austria : 1996) · 2008
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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 at 3 institutions in 2 countries.

F DudbridgeWellcome Trust Centre for Molecular Mechanisms in Disease, University of Cambridge, United Kingdom. frank.dudbridge@cimr.cam.ac.uk
B P Koeleman
J A Todd
D G Clayton
University of Cambridge · GBLeiden University · NLMRC Biostatistics Unit · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

When the transmission/disequilibrium test (TDT) is applied to multilocus haplotypes, a bias may be introduced in some families for which both parents have the same heterozygous genotype at some locus. The bias occurs because haplotypes can only be deduced from certain offspring, with the result that the transmissions of the two parental haplotypes are not independent. We obtain an unbiased TDT for individual haplotypes by calculating the correct variance for the transmission count within a family, using information from multiple siblings if they are available. An existing correction for dependence between siblings in the presence of linkage is retained. To obtain an unbiased multihaplotype TDT, we must either count transmissions from one randomly chosen parent or count all transmissions and estimate the significance level empirically. Alternatively, we may use missing-data techniques to estimate uncertain haplotypes, but these methods are not robust to population stratification. An illustration using data from the insulin-gene region in type 1 diabetes shows that the validity and power of the TDT may vary by an order of magnitude, depending on the method of analysis.

Indexed as

BiasChromosome MappingDiabetes Mellitus, Type 1FemaleHaplotypesHeterozygoteHumansLinkage DisequilibriumMaleNuclear FamilyReproducibility of Results

Identifiers

PMID10775523
PMCPMC1378033
OpenAlexW2034152924

What OpenQuestion holds

Textmetadata
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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.