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Collection and storage of HLA NGS genotyping data for the 17th International HLA and Immunogenetics Workshop
Authors:Chia-Jung Chang  Kazutoyo Osoegawa  Robert P. Milius  Martin Maiers  Wenzhong Xiao  Marcelo Fernandez-Viňa  Steven J. Mack
Affiliation:1. Stanford Genome Technology Center, Palo Alto, CA, USA;2. Histocompatibility, Immunogenetics & Disease Profiling Laboratory, Stanford Blood Center, Palo Alto, CA, USA;3. Bioinformatics Research, National Marrow Donor Program, Minneapolis, MN, USA;4. Massachusetts General Hospital and Shriners Hospital for Children, Boston, MA, USA;5. Department of Pathology, Stanford University Medical Center, Stanford, CA, USA;6. Center for Genetics, Children’s Hospital Oakland Research Institute, Oakland, CA, USA
Abstract:
For over 50?years, the International HLA and Immunogenetics Workshops (IHIW) have advanced the fields of histocompatibility and immunogenetics (H&I) via community sharing of technology, experience and reagents, and the establishment of ongoing collaborative projects. Held in the fall of 2017, the 17th IHIW focused on the application of next generation sequencing (NGS) technologies for clinical and research goals in the H&I fields. NGS technologies have the potential to allow dramatic insights and advances in these fields, but the scope and sheer quantity of data associated with NGS raise challenges for their analysis, collection, exchange and storage. The 17th IHIW adopted a centralized approach to these issues, and we developed the tools, services and systems to create an effective system for capturing and managing these NGS data. We worked with NGS platform and software developers to define a set of distinct but equivalent NGS typing reports that record NGS data in a uniform fashion. The 17th IHIW database applied our standards, tools and services to collect, validate and store those structured, multi-platform data in an automated fashion. We have created community resources to enable exploration of the vast store of curated sequence and allele-name data in the IPD-IMGT/HLA Database, with the goal of creating a long-term community resource that integrates these curated data with new NGS sequence and polymorphism data, for advanced analyses and applications.
Keywords:CSV  Comma-Separated Values  GFE  Gene Feature Enumeration  GL  Genotype List  HLA  Human Leukocyte Antigen  HML  Histoimmunogenetics Markup Language  H&I  Histocompatibility and Immunogenetics  IHIW  International HLA and Immunogenetics Workshop  IMGT  ImMunoGeneTics  IPD  ImmunoPolymorphism Database  IUPAC  International Union of Pure and Applied Chemistry  KIR  Killer-cell Immunoglobulin-like Receptor  MIRING  Minimum Information for Reporting Immunogenomic NGS Genotyping  NGS  Next Generation Sequencing  PI  Principal Investigator  RMAN  Recovery Manager  RSCA  Reference Strand Conformation Analysis  rSSO  Reverse Sequence-Specific Oligo  SBT  Sequence-Based Typing  sFTP  secure File Transfer Protocol  SS  Sequence-Specific  SSO  Sequence-Specific Oligo  SSP  Sequence-Specific Priming  WMDA  World Marrow Donor Association  WS  Workshop  XML  eXtensible Markup Language  International Workshop  17th IHIW  Next generation sequencing  HLA  Database  Data management  XML  HML
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