Refget: standardized access to reference sequences.
Refget: standardized access to reference sequences.
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DOI:
10.1093/bioinformatics/btab524
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发表时间:
2021-12-22
期刊:
影响因子:
--
通讯作者:
Keane TM
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文献类型:
--
作者:
Yates AD;Adams J;Chaturvedi S;Davies RM;Laird M;Leinonen R;Nag R;Sheffield NC;Hofmann O;Keane TM
Reference sequences are essential in creating a baseline of knowledge for many common bioinformatics methods, especially those using genomic sequencing. 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. The refget specification can be found at: https://w3id.org/ga4gh/refget. Supplementary data are available at Bioinformatics online.
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