Evidence map›Paper›PMID 26227424›Full record

ArticleBMC bioinformatics2015

HaploPOP: a software that improves population assignment by combining markers into haplotypes.

Nicolas Duforet-Frebourg, Lucie M Gattepaille, Michael G B Blum, Mattias Jakobsson

Abstract read
In one paragraph

Article in BMC bioinformatics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

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4citing papers in PubMed, 1 pooled it
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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

4 citing papers in PubMed, 1 synthesis or guideline pooled it.

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Nicolas Duforet-FrebourgUniv. Grenoble Alpes, TIMC-IMAG, Grenoble, F-38000, France. duforetn@berkeley.edu.
Lucie M GattepailleDepartment of Evolutionary Biology, Evolutionary Biology Centre, Uppsala University, Uppsala, Sweden. lucie.gattepaille@gmail.com.
Michael G B BlumUniv. Grenoble Alpes, TIMC-IMAG, Grenoble, F-38000, France. michael.blum@imag.fr.
Mattias JakobssonDepartment of Evolutionary Biology, Evolutionary Biology Centre, Uppsala University, Uppsala, Sweden. mattias.jakobsson@ebc.uu.se.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundIn ecology and forensics, some population assignment techniques use molecular markers to assign individuals to known groups. However, assigning individuals to known populations can be difficult if the level of genetic differentiation among populations is small. Most assignment studies handle independent markers, often by pruning markers in Linkage Disequilibrium (LD), ignoring the information contained in the correlation among markers due to LD.

resultsTo improve the accuracy of population assignment, we present an algorithm, implemented in the HaploPOP software, that combines markers into haplotypes, without requiring independence. The algorithm is based on the Gain of Informativeness for Assignment that provides a measure to decide if a pair of markers should be combined into haplotypes, or not, in order to improve assignment. Because complete exploration of all possible solutions for constructing haplotypes is computationally prohibitive, our approach uses a greedy algorithm based on windows of fixed sizes. We evaluate the performance of HaploPOP to assign individuals to populations using a split-validation approach. We investigate both simulated SNPs data and dense genotype data from individuals from Spain and Portugal.

conclusionsOur results show that constructing haplotypes with HaploPOP can substantially reduce assignment error. The HaploPOP software is freely available as a command-line software at www.ieg.uu.se/Jakobsson/software/HaploPOP/.

Indexed as

GenomicsSoftwareAlgorithmsGenetics, PopulationGenotypeHaplotypesHumansInternetLinkage DisequilibriumPolymorphism, Single NucleotidePrincipal Component Analysis

Identifiers

PMID26227424
PMCPMC4521458

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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.