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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...

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Detalles Bibliográficos
Autores principales: Yates, Andrew D, Adams, Jeremy, Chaturvedi, Somesh, Davies, Robert M, Laird, Matthew, Leinonen, Rasko, Nag, Rishi, Sheffield, Nathan C, Hofmann, Oliver, Keane, Thomas M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
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.
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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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