Literature DB >> 29160623

Saddlebags: A software interface for submitting full-length HLA allele sequences to the EMBL-ENA nucleotide database.

B M Matern1, M Groeneweg1, C E M Voorter1, M G J Tilanus1.   

Abstract

Submission of full-length HLA allele sequences presents a unique challenge, both for high-throughput sequencing laboratories and smaller diagnostic laboratories. HLA's extensive polymorphism means that accurate representation and annotation of allele sequence is of critical importance, and curators of nucleotide databases must establish submission formats to ensure high-quality data and prevent ambiguities. The IPD-IMGT/HLA database is established as the standard repository for HLA sequences, and it is a major goal of the 17th International HLA and Immunogenetics Workshop to fill the IPD-IMGT/HLA database with full-length HLA sequences. The process of preparing sequence annotation and metadata is cumbersome and error prone, and it is desirable to create a straightforward and concise method of preparing sequence submissions. We introduce Saddlebags, a software tool for rapid generation of HLA (novel) full-length allele sequence submissions. HLA allele sequences are submitted first to EMBL European Nucleotide Archive (EMBL-ENA), and metadata is gathered for subsequent preparation of an IPD-IMGT/HLA formatted submission. Combining these steps into a pipeline reduces effort and minimizes errors for submitting laboratories. This software has been used by Maastricht University Medical Center Transplantation Immunology Laboratory to submit 79 novel alleles to EMBL-ENA, and the tool is freely available for the HLA community.
© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Keywords:  HLA; Saddlebags; novel allele; sequencing; software; submission

Mesh:

Substances:

Year:  2018        PMID: 29160623     DOI: 10.1111/tan.13179

Source DB:  PubMed          Journal:  HLA        ISSN: 2059-2302            Impact factor:   4.513


  2 in total

1.  Specific amino acid patterns define split specificities of HLA-B15 antigens enabling conversion from DNA-based typing to serological equivalents.

Authors:  Burcu Duygu; Benedict M Matern; Lotte Wieten; Christina E M Voorter; Marcel G J Tilanus
Journal:  Immunogenetics       Date:  2020-06-20       Impact factor: 2.846

2.  TypeLoader2: Automated submission of novel HLA and killer-cell immunoglobulin-like receptor alleles in full length.

Authors:  Bianca Schöne; Markus Fuhrmann; Vineeth Surendranath; Alexander H Schmidt; Vinzenz Lange; Gerhard Schöfl
Journal:  HLA       Date:  2019-04       Impact factor: 4.513

  2 in total

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