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SumStatsRehab: an efficient algorithm for GWAS summary statistics assessment and restoration
BACKGROUND: Generating polygenic risk scores for diseases and complex traits requires high quality GWAS summary statistic files. Often, these files can be difficult to acquire either as a result of unshared or incomplete data. To date, bioinformatics tools which focus on restoring missing columns co...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9594936/ https://www.ncbi.nlm.nih.gov/pubmed/36284273 http://dx.doi.org/10.1186/s12859-022-04920-7 |
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author | Matushyn, Mykyta Bose, Madhuchanda Mahmoud, Abdallah Amr Cuthbertson, Lewis Tello, Carlos Bircan, Karatuğ Ozan Terpolovsky, Andrew Bamunusinghe, Varuna Khan, Umar Novković, Biljana Grabherr, Manfred G. Yazdi, Puya G. |
author_facet | Matushyn, Mykyta Bose, Madhuchanda Mahmoud, Abdallah Amr Cuthbertson, Lewis Tello, Carlos Bircan, Karatuğ Ozan Terpolovsky, Andrew Bamunusinghe, Varuna Khan, Umar Novković, Biljana Grabherr, Manfred G. Yazdi, Puya G. |
author_sort | Matushyn, Mykyta |
collection | PubMed |
description | BACKGROUND: Generating polygenic risk scores for diseases and complex traits requires high quality GWAS summary statistic files. Often, these files can be difficult to acquire either as a result of unshared or incomplete data. To date, bioinformatics tools which focus on restoring missing columns containing identification and association data are limited, which has the potential to increase the number of usable GWAS summary statistics files. RESULTS: SumStatsRehab was able to restore rsID, effect/other alleles, chromosome, base pair position, effect allele frequencies, beta, standard error, and p-values to a better extent than any other currently available tool, with minimal loss. CONCLUSIONS: SumStatsRehab offers a unique tool utilizing both functional programming and pipeline-like architecture, allowing users to generate accurate data restorations for incomplete summary statistics files. This in turn, increases the number of usable GWAS summary statistics files, which may be invaluable for less researched health traits. |
format | Online Article Text |
id | pubmed-9594936 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-95949362022-10-26 SumStatsRehab: an efficient algorithm for GWAS summary statistics assessment and restoration Matushyn, Mykyta Bose, Madhuchanda Mahmoud, Abdallah Amr Cuthbertson, Lewis Tello, Carlos Bircan, Karatuğ Ozan Terpolovsky, Andrew Bamunusinghe, Varuna Khan, Umar Novković, Biljana Grabherr, Manfred G. Yazdi, Puya G. BMC Bioinformatics Research BACKGROUND: Generating polygenic risk scores for diseases and complex traits requires high quality GWAS summary statistic files. Often, these files can be difficult to acquire either as a result of unshared or incomplete data. To date, bioinformatics tools which focus on restoring missing columns containing identification and association data are limited, which has the potential to increase the number of usable GWAS summary statistics files. RESULTS: SumStatsRehab was able to restore rsID, effect/other alleles, chromosome, base pair position, effect allele frequencies, beta, standard error, and p-values to a better extent than any other currently available tool, with minimal loss. CONCLUSIONS: SumStatsRehab offers a unique tool utilizing both functional programming and pipeline-like architecture, allowing users to generate accurate data restorations for incomplete summary statistics files. This in turn, increases the number of usable GWAS summary statistics files, which may be invaluable for less researched health traits. BioMed Central 2022-10-25 /pmc/articles/PMC9594936/ /pubmed/36284273 http://dx.doi.org/10.1186/s12859-022-04920-7 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Research Matushyn, Mykyta Bose, Madhuchanda Mahmoud, Abdallah Amr Cuthbertson, Lewis Tello, Carlos Bircan, Karatuğ Ozan Terpolovsky, Andrew Bamunusinghe, Varuna Khan, Umar Novković, Biljana Grabherr, Manfred G. Yazdi, Puya G. SumStatsRehab: an efficient algorithm for GWAS summary statistics assessment and restoration |
title | SumStatsRehab: an efficient algorithm for GWAS summary statistics assessment and restoration |
title_full | SumStatsRehab: an efficient algorithm for GWAS summary statistics assessment and restoration |
title_fullStr | SumStatsRehab: an efficient algorithm for GWAS summary statistics assessment and restoration |
title_full_unstemmed | SumStatsRehab: an efficient algorithm for GWAS summary statistics assessment and restoration |
title_short | SumStatsRehab: an efficient algorithm for GWAS summary statistics assessment and restoration |
title_sort | sumstatsrehab: an efficient algorithm for gwas summary statistics assessment and restoration |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9594936/ https://www.ncbi.nlm.nih.gov/pubmed/36284273 http://dx.doi.org/10.1186/s12859-022-04920-7 |
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