Evidence map›Paper›PMID 12916017›Full record

ArticleAmerican journal of human genetics2003

Assessing the performance of the haplotype block model of linkage disequilibrium.

Jeffrey D Wall, Jonathan K Pritchard

Open access · bronzeAbstract readEvaluation Study
In one paragraph

Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.

0numbers the graph read from it
0cells of the map it votes in
50citing papers in PubMed
15.5field-weighted citation impact, top 1% 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

50 citing papers in PubMed, 150 citations in OpenAlex.

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  9. Cloud computing-based TagSNP selection algorithm for human genome data.International journal of molecular sciences · 2015
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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

2 authors at 1 institution in 1 country.

Jeffrey D WallDepartment of Human Genetics, The University of Chicago, Chicago, IL 60637, USA. jeffwall@usc.edu
Jonathan K Pritchard
University of Chicago · US

Funding

Linkage Disequilibrium Methods For Complex Trait MappingR01HG002772 · NHGRI · UNIVERSITY OF CHICAGO · PI PRITCHARD, JONATHAN K · 2003 to 2007
$1.7M
NHGRI NIH HHS HG 2772NHGRI NIH HHS R01 HG002772
6 · The paper itself

Abstract

Several recent studies have suggested that linkage disequilibrium (LD) in the human genome has a fundamentally "blocklike" structure. However, thus far there has been little formal assessment of how well the haplotype block model captures the underlying structure of LD. Here we propose quantitative criteria for assessing how blocklike LD is and apply these criteria to both real and simulated data. Analyses of several large data sets indicate that real data show a partial fit to the haplotype block model; some regions conform quite well, whereas others do not. Some improvement could be obtained by genotyping higher marker densities but not by increasing the number of samples. Nonetheless, although the real data are only moderately blocklike, our simulations indicate that, under a model of uniform recombination, the structure of LD would actually fit the block model much less well. Simulations of a model in which much of the recombination occurs in narrow hotspots provide a much better fit to the observed patterns of LD, suggesting that there is extensive fine-scale variation in recombination rates across the human genome.

Indexed as

HaplotypesLinkage DisequilibriumModels, GeneticComputer SimulationRecombination, Genetic

Identifiers

PMID12916017
PMCPMC1180676
OpenAlexW2159372288

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.