Literature DB >> 33719220

Standard reference sequences for submission of HLA genotyping for the 18th International HLA and Immunogenetics Workshop.

Benedict M Matern1, Steven J Mack2, Kazutoyo Osoegawa3, Martin Maiers4,5, Matthias Niemann6, James Robinson7,8, Sebastiaan Heidt9, Eric Spierings1.   

Abstract

The International human leukocyte antigen (HLA) and Immunogenetics Workshops (IHIWs) have fostered international collaborations of researchers and experts in the fields of HLA, histocompatibility and immunology. These IHIW collaborations have comprised many projects focused on achieving a variety of specific goals. The international and collaborative nature of these projects necessitates the collection and analysis of complex data generated in multiple laboratories, often using multiple methods of acquisition. Collection and storage of these data in a consistent way adds value to IHIW projects, which can be extended to future work. DNA-based genotyping data, especially HLA genotyping data, can be transmitted in the form of a Histoimmunogenetics Markup Language (HML) document. HML facilitates clear communication of a genotype and supporting metadata, such as, sequencing platform, laboratory assays, consensus sequence, and interpretation. Sequence information can be reported relative to known reference sequences, which add meaning and context to genotypes. Selecting the correct reference sequence for a given allele sequence is nuanced, and guidelines have emerged through collaborative community efforts such as Data Standards Hackathons. Here, we describe the guidelines established for the selection of reference sequences to be used in transmission of HLA (and MICA/MICB) genotyping data for the 18th IHIW.
© 2021 The Authors. HLA: Immune Response Genetics published by John Wiley & Sons Ltd.

Entities:  

Keywords:  HLA; HML; IHIW; reference sequence; workshop

Year:  2021        PMID: 33719220     DOI: 10.1111/tan.14259

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


  2 in total

1.  Challenges for the standardized reporting of NGS HLA genotyping: Surveying gaps between clinical and research laboratories.

Authors:  Kazutoyo Osoegawa; Gonzalo Montero-Martín; Kalyan C Mallempati; Miranda Bauer; Robert P Milius; Martin Maiers; Marcelo A Fernández-Viña; Steven J Mack
Journal:  Hum Immunol       Date:  2021-09-01       Impact factor: 2.850

2.  Snowflake: A deep learning-based human leukocyte antigen matching algorithm considering allele-specific surface accessibility.

Authors:  Matthias Niemann; Benedict M Matern; Eric Spierings
Journal:  Front Immunol       Date:  2022-07-29       Impact factor: 8.786

  2 in total

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