PMID- 32662817 OWN - NLM STAT- MEDLINE DCOM- 20211122 LR - 20211122 IS - 1477-4054 (Electronic) IS - 1467-5463 (Print) IS - 1467-5463 (Linking) VI - 22 IP - 3 DP - 2021 May 20 TI - Investigations of sequencing data and sample type on HLA class Ia typing with different computational tools. LID - 10.1093/bib/bbaa143 [doi] LID - bbaa143 AB - Human leukocyte antigen (HLA) can encode the human major histocompatibility complex (MHC) proteins and play a key role in adaptive and innate immunity. Emerging clinical evidences suggest that the presentation of tumor neoantigens and neoantigen-specific T cell response associated with MHC class I molecules are of key importance to activate the adaptive immune systemin cancer immunotherapy. Therefore, accurate HLA typing is very essential for the clinical application of immunotherapy. In this study, we conducted performance evaluations of 4 widely used HLA typing tools (OptiType, Phlat, Polysolver and seq2hla) for predicting HLA class Ia genes from WES and RNA-seq data of 28 cancer patients. HLA genotyping data using PCR-SBT method was firstly obtained as the golden standard and was subsequently compared with HLA typing data by using NGS techniques. For both WES data and RNA-seq data, OptiType showed the highest accuracy for HLA-Ia typing than the other 3 programs at 2-digit and 4-digit resolution. Additionally, HLA typing accuracy from WES data was higher than from RNA-seq data (99.11% for WES data versus 96.42% for RNA-seq data). The accuracy of HLA-Ia typing by OptiType can reach 100% with the average depth of HLA gene regions >20x. Besides, the accuracy of 2-digit and 4-digit HLA-Ia typing based on control samples was higher than tumor tissues. In conclusion, OptiType by using WES data from control samples with the high average depth (>20x) of HLA gene regions can present a probably superior performance for HLA-Ia typing, enabling its application in cancer immunotherapy. CI - (c) The Author(s) 2020. Published by Oxford University Press. FAU - Yi, Jian AU - Yi J AD - Cancer Translational Research Institute, YuceBio Technology Co., Ltd., Shenzhen, China. FAU - Chen, Longyun AU - Chen L AD - Cancer Translational Research Institute, YuceBio Technology Co., Ltd., Shenzhen, China. FAU - Xiao, Yajie AU - Xiao Y AD - Cancer Translational Research Institute, YuceBio Technology Co., Ltd., Shenzhen, China. FAU - Zhao, Zhikun AU - Zhao Z AD - Cancer Translational Research Institute, YuceBio Technology Co., Ltd., Shenzhen, China. FAU - Su, Xiaofan AU - Su X AD - Yucebio Cancer Translational Research Institute and Chief Medical Officer for Yucebio Technology Co. LA - eng PT - Journal Article PL - England TA - Brief Bioinform JT - Briefings in bioinformatics JID - 100912837 RN - 0 (HLA Antigens) SB - IM MH - *Genotyping Techniques MH - HLA Antigens/*genetics MH - *Histocompatibility Testing MH - Humans MH - *RNA-Seq MH - *Software PMC - PMC8138914 OTO - NOTNLM OT - Clinical genomics OT - HLA-Ia genotyping OT - NGS OT - OptiType EDAT- 2020/07/15 06:00 MHDA- 2021/11/23 06:00 PMCR- 2020/07/14 CRDT- 2020/07/15 06:00 PHST- 2020/01/05 00:00 [received] PHST- 2020/06/09 00:00 [revised] PHST- 2020/07/15 06:00 [pubmed] PHST- 2021/11/23 06:00 [medline] PHST- 2020/07/15 06:00 [entrez] PHST- 2020/07/14 00:00 [pmc-release] AID - 5871189 [pii] AID - bbaa143 [pii] AID - 10.1093/bib/bbaa143 [doi] PST - ppublish SO - Brief Bioinform. 2021 May 20;22(3):bbaa143. doi: 10.1093/bib/bbaa143.