The HLA-C*14:02:41 allele is distinguished from HLA-C*14:02:01:01 by a single synonymous change at c.606G>C.
The HLA-C*14:02:41 allele is distinguished from HLA-C*14:02:01:01 by a single synonymous change at c.606G>C.
HLA typing is crucial for clinical and research applications, including transplantation, disease association studies and personalised medicine. This study provides an in-depth analysis of five key challenges in computational HLA typing methods: varying lengths, high polymorphism, complex phylogenetic structures, high sequence similarity and the requirement for frequent updates. This study evaluates 27 computation-based HLA typing tools developed over the past 12 years, using a novel sequencing dataset of A549 cell lines with matched short-read RNA-Seq and long-read Iso-Seq data. We comprehensively investigated these 27 tools in terms of accessibility, capability, reliability, reproducibility, scalability and performance. In addition, we discuss the advantages and disadvantages of current tools and identify critical areas for future research and development to advance HLA typing technologies.
HLA-DRB4*01:03:01:22 differs from HLA-DRB4*01:03:01:06 by one nucleotide change in intron 2.
HLA-A*02:1198 differs from HLA-A*02:01:01:01 by one nucleotide substitution in codon −22 in exon 1.
A single nucleotide mismatch within exon 4 of HLA-DQA1 differentiates the novel DQA1*05:90 allele from DQA1*05:09:01:03.
Identification of three novel HLA alleles HLA-DPB1*1619:01, -DPB1*1621:01, and -DPB1*1737:01 in Brazilian individuals.
HLA-DRB1*03:72:02 differs from HLA-DRB1*03:01:01:01 by one nucleotide substitution at position 247 (codon 54) in exon 2.
HLA-DPA1*02:02:02:19 differs from HLA-DPA1*02:02:02:02 by one nucleotide change in intron 1.
The novel HLA-A*02:1196 allele, first described in a potential bone marrow donor from Brazil.
HLA-C*05:01:83 differs from HLA-C*05:01:01:01 by one nucleotide substitution in codon 291 in exon 5.
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