Evidence map›Paper›PMID 9326338›Full record

ArticleAmerican journal of human genetics1997

Association mapping of disease loci, by use of a pooled DNA genomic screen.

L F Barcellos, W Klitz, L L Field, R Tobias, A M Bowcock, R Wilson, M P Nelson, J Nagatomi, G Thomson

Abstract read
In one paragraph

Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.

0numbers the graph read from it
0cells of the map it votes in
52citing papers in PubMed
–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

52 citing papers in PubMed.

  1. Trial
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  9. An evaluation of allele frequency estimation accuracy using pooled sequencing data.International journal of computational biology and drug design · 2013
    Article
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  14. Review
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  20. Pooled association genome scanning for alcohol dependence using 104,268 SNPs: validation and use to identify alcoholism vulnerability loci in unrelated individuals from the collaborative study on the genetics of alcoholism.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2006
    Article
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

9 authors.

L F BarcellosDepartment of Integrative Biology, University of California, Berkeley 94720, USA.
W Klitz
L L Field
R Tobias
A M Bowcock
R Wilson
M P Nelson
J Nagatomi
G Thomson

Funding

POPULATION GENETICS OF THE HLA REGIONR01GM035326 · NIGMS · UNIVERSITY OF CALIFORNIA BERKELEY · PI THOMSON, GLENYS J · 1986 to 2004
$1.1M
MODELS IN POPULATION GENETICSR01GM056688 · NIGMS · UNIVERSITY OF CALIFORNIA BERKELEY · PI THOMSON, GLENYS J · 1997 to 2000
$284k
MAPPING AND ISOLATION OF PSORIASIS SUSCEPTIBILITY GENESR01AR043177 · NIAMS · UNIVERSITY OF TEXAS SW MED CTR/DALLAS · PI BOWCOCK, ANNE MARY · 1995 to 1997
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NIAMS NIH HHS AR43177NIGMS NIH HHS GM35326NIGMS NIH HHS GM56688
6 · The paper itself

Abstract

Genomic screening to map disease loci by association requires automation, pooling of DNA samples, and 3,000-6,000 highly polymorphic, evenly spaced microsatellite markers. Case-control samples can be used in an initial screen, followed by family-based data to confirm marker associations. Association mapping is relevant to genetic studies of complex diseases in which linkage analysis may be less effective and to cases in which multigenerational data are difficult to obtain, including rare or late-onset conditions and infectious diseases. The method can also be used effectively to follow up and confirm regions identified in linkage studies or to investigate candidate disease loci. Study designs can incorporate disease heterogeneity and interaction effects by appropriate subdivision of samples before screening. Here we report use of pooled DNA amplifications-the accurate determination of marker-disease associations for both case-control and nuclear family-based data-including application of correction methods for stutter artifact and preferential amplification. These issues, combined with a discussion of both statistical power and experimental design to define the necessary requirements for detecting of disease loci while virtually eliminating false positives, suggest the feasibility and efficiency of association mapping using pooled DNA screening.

Indexed as

Case-Control StudiesChildChromosome MappingComputer SimulationDNAFemaleGene FrequencyGenetic TestingHemochromatosisHumansMaleMicrosatellite RepeatsDNA

Identifiers

PMID9326338
PMCPMC1715937

What OpenQuestion holds

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Read underepoch 390

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.