Evidence map›Paper›PMID 18230173›Full record

ArticleBMC bioinformatics2008

Evaluation of two methods for computational HLA haplotypes inference using a real dataset.

Bruno F Bettencourt, Margarida R Santos, Raquel N Fialho, Ana R Couto, Maria J Peixoto, João P Pinheiro, Hélder Spínola, Marian G Mora, Cristina Santos, António Brehm and 1 more

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In one paragraph

Article in BMC bioinformatics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

7 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

11 authors.

Bruno F BettencourtHospital Santo Espírito de Angra do Heroísmo, SEEBMO, Angra do Heroísmo, Azores, Portugal. bfbettencourt@seebmo.org
Margarida R Santos
Raquel N Fialho
Ana R Couto
Maria J Peixoto
João P Pinheiro
Hélder Spínola
Marian G Mora
Cristina Santos
António Brehm
Jácome Bruges-Armas

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHLA haplotype analysis has been used in population genetics and in the investigation of disease-susceptibility locus, due to its high polymorphism. Several methods for inferring haplotype genotypic data have been proposed, but it is unclear how accurate each of the methods is or which method is superior. The accuracy of two of the leading methods of computational haplotype inference--Expectation-Maximization algorithm based (implemented in Arlequin V3.0) and Bayesian algorithm based (implemented in PHASE V2.1.1)--was compared using a set of 122 HLA haplotypes (A-B-Cw-DQB1-DRB1) determined through direct counting. The accuracy was measured with the Mean Squared Error (MSE), Similarity Index (IF) and Haplotype Identification Index (IH).

resultsNone of the methods inferred all of the known haplotypes and some differences were observed in the accuracy of the two methods in terms of both haplotype determination and haplotype frequencies estimation. Working with haplotypes composed by low polymorphic sites, present in more than one individual, increased the confidence in the assignment of haplotypes and in the estimation of the haplotype frequencies generated by both programs.

conclusionThe PHASE v2.1.1 implemented method had the best overall performance both in haplotype construction and frequency calculation, although the differences between the two methods were insubstantial. To our knowledge this was the first work aiming to test statistical methods using real haplotypic data from the HLA region.

Indexed as

AlgorithmsDNA Mutational AnalysisHaplotypesHLA AntigensHumansPolymorphism, Single NucleotideReproducibility of ResultsSensitivity and SpecificitySequence Analysis, DNAHLA Antigens

Identifiers

PMID18230173
PMCPMC2268655

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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.