Evidence map›Paper›PMID 9545387›Full record

ArticleAmerican journal of human genetics1998

A simple method for analyzing microsatellite allele image patterns generated from DNA pools and its application to allelic association studies.

J Daniels, P Holmans, N Williams, D Turic, P McGuffin, R Plomin, M J Owen

Abstract read
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Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.

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25citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

Who cites it

25 citing papers in PubMed.

  1. Article
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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
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  19. Efficiency of single-nucleotide polymorphism haplotype estimation from pooled DNA.Proceedings of the National Academy of Sciences of the United States of America · 2003
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  20. Article
4 · The record

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5 · Who and what money

Authors and funding

7 authors.

J DanielsDivision of Psychological Medicine, University of Wales College of Medicine, Cardiff, UK.
P Holmans
N Williams
D Turic
P McGuffin
R Plomin
M J Owen

Funding

NICHD NIH HHS HD-27964
6 · The paper itself

Abstract

Allelic association studies provide the most powerful method for locating genes of small effect contributing to complex diseases and traits. However, in outbred populations, allelic association is usually maintained only over distances of <=1 cM. Therefore, systematic searches over large regions are costly. Here we present a method involving DNA pooling that can be used as a rapid preliminary screen for allelic association with the most common class of polymorphic markers, single-sequence repeats. Patient and control samples are pooled separately, and markers are typed in the two pools. By use of primers with fluorescent 5' ends, PCR products can be analyzed on an automated sequencing apparatus. Allele image patterns (AIPs) produced for the two groups are overlaid and differences in pattern area between pools computed. From this, a DeltaAIP statistic is calculated from the difference in areas between the two AIPs expressed as a fraction of the total shared and nonshared area. AIPs of a range of different-sized pools were generated by computer simulation for markers with a range of allele sizes and frequencies. DeltaAIPs from pools and chi2 values for individual genotypings were compared, with both simulated and real data from microsatellite markers. The results demonstrated a high correlation between DeltaAIP and chi2 values. DeltaAIP analysis of real microsatellite data indicated the feasibility of using this method in systematic searches for allelic association and generated a small number of false positives but few false negatives. We conclude that DeltaAIP analysis of DNA pools can be used effectively and efficiently as a rapid screen for allelic association in case-control studies.

Indexed as

AllelesComputer SimulationDNAGene PoolMicrosatellite RepeatsNumerical Analysis, Computer-AssistedGenotypeHumansImage Processing, Computer-AssistedReproducibility of ResultsDNA

Identifiers

PMID9545387
PMCPMC1377074

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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.