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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2023
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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. |
format | Online Article Text |
id | pubmed-9991497 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
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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