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genipe: an automated genome-wide imputation pipeline with automatic reporting and statistical tools
Summary: Genotype imputation is now commonly performed following genome-wide genotyping experiments. Imputation increases the density of analyzed genotypes in the dataset, enabling fine-mapping across the genome. However, the process of imputation using the most recent publicly available reference d...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5181529/ https://www.ncbi.nlm.nih.gov/pubmed/27497439 http://dx.doi.org/10.1093/bioinformatics/btw487 |
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author | Lemieux Perreault, Louis-Philippe Legault, Marc-André Asselin, Géraldine Dubé, Marie-Pierre |
author_facet | Lemieux Perreault, Louis-Philippe Legault, Marc-André Asselin, Géraldine Dubé, Marie-Pierre |
author_sort | Lemieux Perreault, Louis-Philippe |
collection | PubMed |
description | Summary: Genotype imputation is now commonly performed following genome-wide genotyping experiments. Imputation increases the density of analyzed genotypes in the dataset, enabling fine-mapping across the genome. However, the process of imputation using the most recent publicly available reference datasets can require considerable computation power and the management of hundreds of large intermediate files. We have developed genipe, a complete genome-wide imputation pipeline which includes automatic reporting, imputed data indexing and management, and a suite of statistical tests for imputed data commonly used in genetic epidemiology (Sequence Kernel Association Test, Cox proportional hazards for survival analysis, and linear mixed models for repeated measurements in longitudinal studies). Availability and Implementation: The genipe package is an open source Python software and is freely available for non-commercial use (CC BY-NC 4.0) at https://github.com/pgxcentre/genipe. Documentation and tutorials are available at http://pgxcentre.github.io/genipe. Contact: louis-philippe.lemieux.perreault@statgen.org or marie-pierre.dube@statgen.org Supplementary information: Supplementary data are available at Bioinformatics online. |
format | Online Article Text |
id | pubmed-5181529 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-51815292016-12-27 genipe: an automated genome-wide imputation pipeline with automatic reporting and statistical tools Lemieux Perreault, Louis-Philippe Legault, Marc-André Asselin, Géraldine Dubé, Marie-Pierre Bioinformatics Applications Notes Summary: Genotype imputation is now commonly performed following genome-wide genotyping experiments. Imputation increases the density of analyzed genotypes in the dataset, enabling fine-mapping across the genome. However, the process of imputation using the most recent publicly available reference datasets can require considerable computation power and the management of hundreds of large intermediate files. We have developed genipe, a complete genome-wide imputation pipeline which includes automatic reporting, imputed data indexing and management, and a suite of statistical tests for imputed data commonly used in genetic epidemiology (Sequence Kernel Association Test, Cox proportional hazards for survival analysis, and linear mixed models for repeated measurements in longitudinal studies). Availability and Implementation: The genipe package is an open source Python software and is freely available for non-commercial use (CC BY-NC 4.0) at https://github.com/pgxcentre/genipe. Documentation and tutorials are available at http://pgxcentre.github.io/genipe. Contact: louis-philippe.lemieux.perreault@statgen.org or marie-pierre.dube@statgen.org Supplementary information: Supplementary data are available at Bioinformatics online. Oxford University Press 2016-12-01 2016-08-06 /pmc/articles/PMC5181529/ /pubmed/27497439 http://dx.doi.org/10.1093/bioinformatics/btw487 Text en © The Author 2016. Published by Oxford University Press. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | Applications Notes Lemieux Perreault, Louis-Philippe Legault, Marc-André Asselin, Géraldine Dubé, Marie-Pierre genipe: an automated genome-wide imputation pipeline with automatic reporting and statistical tools |
title | genipe: an automated genome-wide imputation pipeline with automatic reporting and statistical tools |
title_full | genipe: an automated genome-wide imputation pipeline with automatic reporting and statistical tools |
title_fullStr | genipe: an automated genome-wide imputation pipeline with automatic reporting and statistical tools |
title_full_unstemmed | genipe: an automated genome-wide imputation pipeline with automatic reporting and statistical tools |
title_short | genipe: an automated genome-wide imputation pipeline with automatic reporting and statistical tools |
title_sort | genipe: an automated genome-wide imputation pipeline with automatic reporting and statistical tools |
topic | Applications Notes |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5181529/ https://www.ncbi.nlm.nih.gov/pubmed/27497439 http://dx.doi.org/10.1093/bioinformatics/btw487 |
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