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Refget: standardized access to reference sequences
MOTIVATION: Reference sequences are essential in creating a baseline of knowledge for many common bioinformatics methods, especially those using genomic sequencing. RESULTS: We have created refget, a Global Alliance for Genomics and Health API specification to access reference sequences and sub-sequ...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8696098/ https://www.ncbi.nlm.nih.gov/pubmed/34260694 http://dx.doi.org/10.1093/bioinformatics/btab524 |
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author | Yates, Andrew D Adams, Jeremy Chaturvedi, Somesh Davies, Robert M Laird, Matthew Leinonen, Rasko Nag, Rishi Sheffield, Nathan C Hofmann, Oliver Keane, Thomas M |
author_facet | Yates, Andrew D Adams, Jeremy Chaturvedi, Somesh Davies, Robert M Laird, Matthew Leinonen, Rasko Nag, Rishi Sheffield, Nathan C Hofmann, Oliver Keane, Thomas M |
author_sort | Yates, Andrew D |
collection | PubMed |
description | MOTIVATION: Reference sequences are essential in creating a baseline of knowledge for many common bioinformatics methods, especially those using genomic sequencing. RESULTS: We have created refget, a Global Alliance for Genomics and Health API specification to access reference sequences and sub-sequences using an identifier derived from the sequence itself. We present four reference implementations across in-house and cloud infrastructure, a compliance suite and a web report used to ensure specification conformity across implementations. AVAILABILITY AND IMPLEMENTATION: The refget specification can be found at: https://w3id.org/ga4gh/refget. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. |
format | Online Article Text |
id | pubmed-8696098 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-86960982022-01-04 Refget: standardized access to reference sequences Yates, Andrew D Adams, Jeremy Chaturvedi, Somesh Davies, Robert M Laird, Matthew Leinonen, Rasko Nag, Rishi Sheffield, Nathan C Hofmann, Oliver Keane, Thomas M Bioinformatics Applications Notes MOTIVATION: Reference sequences are essential in creating a baseline of knowledge for many common bioinformatics methods, especially those using genomic sequencing. RESULTS: We have created refget, a Global Alliance for Genomics and Health API specification to access reference sequences and sub-sequences using an identifier derived from the sequence itself. We present four reference implementations across in-house and cloud infrastructure, a compliance suite and a web report used to ensure specification conformity across implementations. AVAILABILITY AND IMPLEMENTATION: The refget specification can be found at: https://w3id.org/ga4gh/refget. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Oxford University Press 2021-07-14 /pmc/articles/PMC8696098/ /pubmed/34260694 http://dx.doi.org/10.1093/bioinformatics/btab524 Text en © The Author(s) 2021. 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 Notes Yates, Andrew D Adams, Jeremy Chaturvedi, Somesh Davies, Robert M Laird, Matthew Leinonen, Rasko Nag, Rishi Sheffield, Nathan C Hofmann, Oliver Keane, Thomas M Refget: standardized access to reference sequences |
title | Refget: standardized access to reference sequences |
title_full | Refget: standardized access to reference sequences |
title_fullStr | Refget: standardized access to reference sequences |
title_full_unstemmed | Refget: standardized access to reference sequences |
title_short | Refget: standardized access to reference sequences |
title_sort | refget: standardized access to reference sequences |
topic | Applications Notes |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8696098/ https://www.ncbi.nlm.nih.gov/pubmed/34260694 http://dx.doi.org/10.1093/bioinformatics/btab524 |
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