Human ImmunologyBioinformaticsPeer-reviewed journal article
Collection and Storage of HLA NGS Genotyping Data for the 17th International HLA and Immunogenetics Workshop
Chia-Jung ChangiD, Kazutoyo OsoegawaiD, Robert P. MiliusiD, Martin J. MaiersiD, Wenzhong XiaoiD, Marcelo Fernández-ViñaiD, Steven J. MackiD
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. In the fall of 2017, the 17th IHIW will focus 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 17 th IHIW has adopted a centralized approach to these issues, and we have been developing the tools, services and systems to create an effective system for capturing and managing these NGS data. We have 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 applies our standards, tools and services to collect, validate and store those structured, multi-platform data in an automated fashion. We are creating 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.\n\nAbbreviations
- organism: human
- assay: whole-exome sequencing
- research focus: database / resource
- research focus: variant calling
- research focus: variant effect prediction
- approach: statistical model
- approach: benchmark study
- Citations
- 17
- FWCI
- 1.12
- Field percentile
- top 23%
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