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Haptools: a toolkit for admixture and haplotype analysis

SUMMARY: Leveraging local ancestry and haplotype information in genome-wide association studies and downstream analyses can improve the utility of genomics for individuals from diverse and recently admixed ancestries. However, most existing simulation, visualization and variant analysis frameworks a...

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Autores principales: Massarat, Arya R, Lamkin, Michael, Reeve, Ciara, Williams, Amy L, D’Antonio, Matteo, Gymrek, Melissa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9991497/
https://www.ncbi.nlm.nih.gov/pubmed/36847450
http://dx.doi.org/10.1093/bioinformatics/btad104
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author Massarat, Arya R
Lamkin, Michael
Reeve, Ciara
Williams, Amy L
D’Antonio, Matteo
Gymrek, Melissa
author_facet Massarat, Arya R
Lamkin, Michael
Reeve, Ciara
Williams, Amy L
D’Antonio, Matteo
Gymrek, Melissa
author_sort Massarat, Arya R
collection PubMed
description SUMMARY: Leveraging local ancestry and haplotype information in genome-wide association studies and downstream analyses can improve the utility of genomics for individuals from diverse and recently admixed ancestries. However, most existing simulation, visualization and variant analysis frameworks are based on variant-level analysis and do not automatically handle these features. We present haptools, an open-source toolkit for performing local ancestry aware and haplotype-based analysis of complex traits. Haptools supports fast simulation of admixed genomes, visualization of admixture tracks, simulation of haplotype- and local ancestry-specific phenotype effects and a variety of file operations and statistics computed in a haplotype-aware manner. AVAILABILITY AND IMPLEMENTATION: Haptools is freely available at https://github.com/cast-genomics/haptools. DOCUMENTATION: Detailed documentation is available at https://haptools.readthedocs.io. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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spelling pubmed-99914972023-03-08 Haptools: a toolkit for admixture and haplotype analysis Massarat, Arya R Lamkin, Michael Reeve, Ciara Williams, Amy L D’Antonio, Matteo Gymrek, Melissa Bioinformatics Applications Note SUMMARY: Leveraging local ancestry and haplotype information in genome-wide association studies and downstream analyses can improve the utility of genomics for individuals from diverse and recently admixed ancestries. However, most existing simulation, visualization and variant analysis frameworks are based on variant-level analysis and do not automatically handle these features. We present haptools, an open-source toolkit for performing local ancestry aware and haplotype-based analysis of complex traits. Haptools supports fast simulation of admixed genomes, visualization of admixture tracks, simulation of haplotype- and local ancestry-specific phenotype effects and a variety of file operations and statistics computed in a haplotype-aware manner. AVAILABILITY AND IMPLEMENTATION: Haptools is freely available at https://github.com/cast-genomics/haptools. DOCUMENTATION: Detailed documentation is available at https://haptools.readthedocs.io. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Oxford University Press 2023-02-27 /pmc/articles/PMC9991497/ /pubmed/36847450 http://dx.doi.org/10.1093/bioinformatics/btad104 Text en © The Author(s) 2023. Published by Oxford University Press. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Applications Note
Massarat, Arya R
Lamkin, Michael
Reeve, Ciara
Williams, Amy L
D’Antonio, Matteo
Gymrek, Melissa
Haptools: a toolkit for admixture and haplotype analysis
title Haptools: a toolkit for admixture and haplotype analysis
title_full Haptools: a toolkit for admixture and haplotype analysis
title_fullStr Haptools: a toolkit for admixture and haplotype analysis
title_full_unstemmed Haptools: a toolkit for admixture and haplotype analysis
title_short Haptools: a toolkit for admixture and haplotype analysis
title_sort haptools: a toolkit for admixture and haplotype analysis
topic Applications Note
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9991497/
https://www.ncbi.nlm.nih.gov/pubmed/36847450
http://dx.doi.org/10.1093/bioinformatics/btad104
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