Evidence map›Paper›PMID 11083947›Full record

ArticleAmerican journal of human genetics2001

Extent and distribution of linkage disequilibrium in three genomic regions.

G R Abecasis, E Noguchi, A Heinzmann, J A Traherne, S Bhattacharyya, N I Leaves, G G Anderson, Y Zhang, N J Lench, A Carey and 3 more

Abstract read
In one paragraph

Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 102 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
102citing papers in PubMed, 3 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

102 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Imputing Phenotypes for Genome-wide Association Studies.American journal of human genetics · 2016
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  13. Combined effects of multiple linked loci on pairwise sibling tests.International journal of legal medicine · 2017
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  14. Colocalization of GWAS and eQTL Signals Detects Target Genes.American journal of human genetics · 2016
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42 more citing papers are in PubMed but not listed here.

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

13 authors.

G R AbecasisWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, England OX3 7BN. kayser@eva.mpg.de
E Noguchi
A Heinzmann
J A Traherne
S Bhattacharyya
N I Leaves
G G Anderson
Y Zhang
N J Lench
A Carey
L R Cardon
M F Moffatt
W O Cookson

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The positional cloning of genes underlying common complex diseases relies on the identification of linkage disequilibrium (LD) between genetic markers and disease. We have examined 127 polymorphisms in three genomic regions in a sample of 575 chromosomes from unrelated individuals of British ancestry. To establish phase, 800 individuals were genotyped in 160 families. The fine structure of LD was found to be highly irregular. Forty-five percent of the variation in disequilibrium measures could be explained by physical distance. Additional factors, such as allele frequency, type of polymorphism, and genomic location, explained <5% of the variation. Nevertheless, disequilibrium was occasionally detectable at 500 kb and was present for over one-half of marker pairs separated by <50 kb. Although these findings are encouraging for the prospects of a genomewide LD map, they suggest caution in interpreting localization due to allelic association.

Indexed as

Genome, HumanComputer SimulationEnglandFemaleGene FrequencyHaplotypesHumansLinkage DisequilibriumMaleModels, GeneticPedigreePolymorphism, GeneticPolymorphism, Single NucleotideWhite People

Identifiers

PMID11083947
PMCPMC1234912

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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.