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A survey of current software for haplotype phase inference

In the past two years, tracking the explosion in data due to ever-improving single nucleotide polymorphism (SNP) maps and cheaper high-throughput genotyping technologies, a bewildering array of new algorithms and relevant software have appeared for haplotype phase inference. The alternatives to hapl...

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Detalles Bibliográficos
Autor principal: Weale, Michael E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2004
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3525072/
https://www.ncbi.nlm.nih.gov/pubmed/15601542
http://dx.doi.org/10.1186/1479-7364-1-2-141
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author Weale, Michael E
author_facet Weale, Michael E
author_sort Weale, Michael E
collection PubMed
description In the past two years, tracking the explosion in data due to ever-improving single nucleotide polymorphism (SNP) maps and cheaper high-throughput genotyping technologies, a bewildering array of new algorithms and relevant software have appeared for haplotype phase inference. The alternatives to haplotype inference are to resolve haplotypes completely, either by in vitro methods or by typing close pedigrees, which is expensive and is not guaranteed in pedigrees, or to ignore haplotype-level analysis in favour of genotype-level analysis, which avoids the danger of treating inferred haplotypes as real but denies the researcher, potentially, any valuable analytic insights. This review attempts a snapshot of this rapidly moving field as it stands at present, and is mainly restricted, given the current predominance of SNP genotyping, to the consideration of diallelic data. For completeness, the review will occasionally refer to algorithms for which no software exists.
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spelling pubmed-35250722012-12-19 A survey of current software for haplotype phase inference Weale, Michael E Hum Genomics Software Review In the past two years, tracking the explosion in data due to ever-improving single nucleotide polymorphism (SNP) maps and cheaper high-throughput genotyping technologies, a bewildering array of new algorithms and relevant software have appeared for haplotype phase inference. The alternatives to haplotype inference are to resolve haplotypes completely, either by in vitro methods or by typing close pedigrees, which is expensive and is not guaranteed in pedigrees, or to ignore haplotype-level analysis in favour of genotype-level analysis, which avoids the danger of treating inferred haplotypes as real but denies the researcher, potentially, any valuable analytic insights. This review attempts a snapshot of this rapidly moving field as it stands at present, and is mainly restricted, given the current predominance of SNP genotyping, to the consideration of diallelic data. For completeness, the review will occasionally refer to algorithms for which no software exists. BioMed Central 2004-01-01 /pmc/articles/PMC3525072/ /pubmed/15601542 http://dx.doi.org/10.1186/1479-7364-1-2-141 Text en Copyright ©2004 Henry Stewart Publications
spellingShingle Software Review
Weale, Michael E
A survey of current software for haplotype phase inference
title A survey of current software for haplotype phase inference
title_full A survey of current software for haplotype phase inference
title_fullStr A survey of current software for haplotype phase inference
title_full_unstemmed A survey of current software for haplotype phase inference
title_short A survey of current software for haplotype phase inference
title_sort survey of current software for haplotype phase inference
topic Software Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3525072/
https://www.ncbi.nlm.nih.gov/pubmed/15601542
http://dx.doi.org/10.1186/1479-7364-1-2-141
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