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fcGENE: A Versatile Tool for Processing and Transforming SNP Datasets

BACKGROUND: Modern analysis of high-dimensional SNP data requires a number of biometrical and statistical methods such as pre-processing, analysis of population structure, association analysis and genotype imputation. Software used for these purposes often rely on specific and incompatible input and...

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Autores principales: Roshyara, Nab Raj, Scholz, Markus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4106754/
https://www.ncbi.nlm.nih.gov/pubmed/25050709
http://dx.doi.org/10.1371/journal.pone.0097589
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author Roshyara, Nab Raj
Scholz, Markus
author_facet Roshyara, Nab Raj
Scholz, Markus
author_sort Roshyara, Nab Raj
collection PubMed
description BACKGROUND: Modern analysis of high-dimensional SNP data requires a number of biometrical and statistical methods such as pre-processing, analysis of population structure, association analysis and genotype imputation. Software used for these purposes often rely on specific and incompatible input and output data formats. Therefore extensive data management including multiple format conversions is necessary during analyses. METHODS: In order to support fast and efficient management and bio-statistical quality control of high-dimensional SNP data, we developed the publically available software fcGENE using C++ object-oriented programming language. This software simplifies and automates the use of different existing analysis packages, especially during the workflow of genotype imputations and corresponding analyses. RESULTS: fcGENE transforms SNP data and imputation results into different formats required for a large variety of analysis packages such as PLINK, SNPTEST, HAPLOVIEW, EIGENSOFT, GenABEL and tools used for genotype imputation such as MaCH, IMPUTE, BEAGLE and others. Data Management tasks like merging, splitting, extracting SNP and pedigree information can be performed. fcGENE also supports a number of bio-statistical quality control processes and quality based filtering processes at SNP- and sample-wise level. The tool also generates templates of commands required to run specific software packages, especially those required for genotype imputation. We demonstrate the functionality of fcGENE by example workflows of SNP data analyses and provide a comprehensive manual of commands, options and applications. CONCLUSIONS: We have developed a user-friendly open-source software fcGENE, which comprehensively supports SNP data management, quality control and analysis workflows. Download statistics and corresponding feedbacks indicate that software is highly recognised and extensively applied by the scientific community.
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spelling pubmed-41067542014-07-23 fcGENE: A Versatile Tool for Processing and Transforming SNP Datasets Roshyara, Nab Raj Scholz, Markus PLoS One Research Article BACKGROUND: Modern analysis of high-dimensional SNP data requires a number of biometrical and statistical methods such as pre-processing, analysis of population structure, association analysis and genotype imputation. Software used for these purposes often rely on specific and incompatible input and output data formats. Therefore extensive data management including multiple format conversions is necessary during analyses. METHODS: In order to support fast and efficient management and bio-statistical quality control of high-dimensional SNP data, we developed the publically available software fcGENE using C++ object-oriented programming language. This software simplifies and automates the use of different existing analysis packages, especially during the workflow of genotype imputations and corresponding analyses. RESULTS: fcGENE transforms SNP data and imputation results into different formats required for a large variety of analysis packages such as PLINK, SNPTEST, HAPLOVIEW, EIGENSOFT, GenABEL and tools used for genotype imputation such as MaCH, IMPUTE, BEAGLE and others. Data Management tasks like merging, splitting, extracting SNP and pedigree information can be performed. fcGENE also supports a number of bio-statistical quality control processes and quality based filtering processes at SNP- and sample-wise level. The tool also generates templates of commands required to run specific software packages, especially those required for genotype imputation. We demonstrate the functionality of fcGENE by example workflows of SNP data analyses and provide a comprehensive manual of commands, options and applications. CONCLUSIONS: We have developed a user-friendly open-source software fcGENE, which comprehensively supports SNP data management, quality control and analysis workflows. Download statistics and corresponding feedbacks indicate that software is highly recognised and extensively applied by the scientific community. Public Library of Science 2014-07-22 /pmc/articles/PMC4106754/ /pubmed/25050709 http://dx.doi.org/10.1371/journal.pone.0097589 Text en © 2014 Roshyara, Scholz http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Roshyara, Nab Raj
Scholz, Markus
fcGENE: A Versatile Tool for Processing and Transforming SNP Datasets
title fcGENE: A Versatile Tool for Processing and Transforming SNP Datasets
title_full fcGENE: A Versatile Tool for Processing and Transforming SNP Datasets
title_fullStr fcGENE: A Versatile Tool for Processing and Transforming SNP Datasets
title_full_unstemmed fcGENE: A Versatile Tool for Processing and Transforming SNP Datasets
title_short fcGENE: A Versatile Tool for Processing and Transforming SNP Datasets
title_sort fcgene: a versatile tool for processing and transforming snp datasets
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4106754/
https://www.ncbi.nlm.nih.gov/pubmed/25050709
http://dx.doi.org/10.1371/journal.pone.0097589
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