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:
Bioinformatics (Oxford, England)
影响因子:
--
通讯作者:
Keane TM
Keane TM
中科院分区:
其他
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

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参考序列是为许多常见的生物信息学方法,特别是那些使用基因组测序的方法创建知识基线的关键。我们已经创建了refget,这是一个全球基因组学和健康联盟API规范,用于使用从序列本身衍生的标识符访问参考序列和子序列。我们在内部和云基础设施中提供了四个参考实现,一个合规套件和一个用于确保实现规范一致性的Web报告。refget规范可以在https://w3id.org/ga4gh/refget上找到。 补充数据可在Bioinformatics在线获得。
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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