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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...

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Autores principales: Lemieux Perreault, Louis-Philippe, Legault, Marc-André, Asselin, Géraldine, Dubé, Marie-Pierre
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
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.
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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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