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Quality control project of NGS HLA genotyping for the 17th International HLA and Immunogenetics Workshop

. 2019 Apr ; 80 (4) : 228-236. [epub] 20190206

Language English Country United States Media print-electronic

Document type Journal Article, Review

Grant support
R01 AI128775 NIAID NIH HHS - United States
R01 GM109030 NIGMS NIH HHS - United States
RP-PG-0310-1003 Department of Health - United Kingdom
U19 NS095774 NINDS NIH HHS - United States

Links

PubMed 30738112
PubMed Central PMC6446570
DOI 10.1016/j.humimm.2019.01.009
PII: S0198-8859(19)30127-2
Knihovny.cz E-resources

The 17th International HLA and Immunogenetics Workshop (IHIW) organizers conducted a Pilot Study (PS) in which 13 laboratories (15 groups) participated to assess the performance of the various sequencing library preparation protocols, NGS platforms and software in use prior to the workshop. The organizers sent 50 cell lines to each of the 15 groups, scored the 15 independently generated sets of NGS HLA genotyping data, and generated "consensus" HLA genotypes for each of the 50 cell lines. Proficiency Testing (PT) was subsequently organized using four sets of 24 cell lines, selected from 48 of 50 PS cell lines, to validate the quality of NGS HLA typing data from the 34 participating IHIW laboratories. Completion of the PT program with a minimum score of 95% concordance at the HLA-A, HLA-B, HLA-C, HLA-DRB1 and HLA-DQB1 loci satisfied the requirements to submit NGS HLA typing data for the 17th IHIW projects. Together, these PS and PT efforts constituted the 17th IHIW Quality Control project. Overall PT concordance rates for HLA-A, HLA-B, HLA-C, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-DRB3, HLA-DRB4 and HLA-DRB5 were 98.1%, 97.0% and 98.1%, 99.0%, 98.6%, 98.8%, 97.6%, 96.0%, 99.1%, 90.0% and 91.7%, respectively. Across all loci, the majority of the discordance was due to allele dropout. The high cost of NGS HLA genotyping per experiment likely prevented the retyping of initially failed HLA loci. Despite the high HLA genotype concordance rates of the software, there remains room for improvement in the assembly of more accurate consensus DNA sequences by NGS HLA genotyping software.

Alexandrovska Hospital Sofia Bulgaria

All India Institute of Medical Sciences New Delhi India

Anthony Nolan Research Institute and UCL Cancer Institute Royal Free Campus London UK

Australian Red Cross Blood Services Melbourne Australia

Baylor University Medical Center Dallas TX USA

Bo Fu Rui Transplant Diagnostics Beijing China

Cambridge University Hospitals NHS Foundation Trust Cambridge UK

Center for Genetics Children's Hospital Oakland Research Institute Oakland CA USA

Centro de Diagonóstico Biomédico Hospital Clínic de Barcelona Barcelona Spain

City of Hope National Medical Center Duarte CA USA

Department of Blood Group Serology and Transfusion Medicine Medical University of Vienna Vienna Austria

Department of Immunology Genetics and Pathology Uppsala University Uppsala Sweden

Department of Pathology and Laboratory Medicine University of North Carolina at Chapel Hill School of Medicine NC USA

Division of Clinical Research Fred Hutchinson Cancer Research Center Seattle WA USA; Department of Pediatrics University of Washington School of Medicine Seattle WA USA

Ente Ospedaliero Ospedali Galliera Genova Italy

Fondazione 1 M E Istituto Mediterraneo Di Ematologia Rome Italy

GenDx Utrecht Netherlands

Georgetown University Medical Center Washington DC USA

Health Sciences Center Kuwait University Jabriya Kuwait

Hellenic Cord Blood Bank Athens Greece

Histocompatibility and Immunogenetics Laboratory Nantes France

Histocompatibility Immunogenetics and Disease Profiling Laboratory Stanford Blood Center Palo Alto CA USA

Histocompatibility Immunogenetics and Disease Profiling Laboratory Stanford Blood Center Palo Alto CA USA; Department of Pathology Stanford University School of Medicine Stanford CA USA

Histocompatibility Immunogenetics and Disease Profiling Laboratory Stanford Blood Center Palo Alto CA USA; University of Crete Biology Department Heraklion Greece; Department of Pathology Stanford University School of Medicine Stanford CA USA

Histocompatibility Molecular Genetics American Red Cross Philadelphia PA USA

Hospital Albert Einstein Sao Paulo Brazil

Illumina Inc San Diego CA USA

Johns Hopkins University School of Medicine Baltimore MD USA

Kashi Clinical Laboratories Inc Portland OR USA

McGill University Health Centre Montreal QC Canada

McGill University Health Centre Montreal QC Canada; Department of Human Genetics McGill University Montreal Quebec Canada

National H and 1 Service Development Laboratory NHS Blood and Transplant London UK

New Zealand Blood Service Epsom Auckland New Zealand

One Lambda Thermo Fisher Scientific Canoga Park CA USA

Palacky University Faculty of Medicine and Dentistry Olomouc Czech Republic

PathWest Fiona Stanley Hospital Murdoch WA Australia

Primer Centro Argentino de Immunogenetica Fundación Favaloro CABA Argentina

Rogachev Federal Research Centre of Pediatric Hematology Oncology and Immunology Moscow Russian Federation

Stanford Genome Technology Center Palo Alto CA USA

The University of Chicago Medicine Chicago IL USA

Tokai University School of Medicine Kanagawa Japan

Transplantation and Immunology Universitat Tuebingen Germany

Transplantation Immunology Ulm Germany

University Medical Center Utrecht Netherlands

University of California Los Angeles Immunogenetics Center Los Angeles CA USA

University of California San Diego La Jolla CA USA

University of Miami Miller School of Medicine USA

University of Tokyo Tokyo Japan

Walter Reed Army Institute of Research Silver Spring MD USA; Henry M Jackson Foundation for the Advancement of Military Medicine Bethesda MD USA

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