The novel HLA-C*04:01:01:182 allele identified in a candidate bone marrow donor by next-generation sequencing.

HLA-C*04:01:01:182 differs from the HLA-C*04:01:01:06 allele by one nucleotide substitution in the 5'UTR.

The novel HLA-C*14:02:01:31 allele identified in a candidate bone marrow donor by next-generation sequencing.

Characterisation of the novel HLA-C*14:02:01:31 allele in a 21-year-old Greek bone marrow donor.

Identification of the new allele HLA-C*04:01:01:186 in a Greek individual using next generation sequencing.

The newly discovered HLA-C*04:01:01:186 allele differs from HLA-C*04:01:01:01 by a single nucleotide substitution in intron 3.

Characterisation of the novel HLA-B*38:01:01:18 allele by next-generation sequencing.

HLA-B*38:01:01:18 differs from the HLA-B*38:01:01:01 allele by one nucleotide substitution in the 5'UTR.

Characterisation of the novel HLA-B*07:02:01:110 allele by next-generation sequencing.

HLA-B*07:02:01:110 differs from the HLA-B*07:02:01:01 allele by two nucleotide substitutions in the 3'UTR.

Characterisation of the novel HLA-A*32:01:01:41 allele by next-generation sequencing.

HLA-A*32:01:01:41 differs from the HLA-A*32:01:01:01 allele by one nucleotide substitution in the intron 3.

A novel HLA-C*17 variant, HLA-C*17:01:01:29, identified in a healthy individual from Greece.

HLA-C*17:01:01:29 differs from the HLA-C*17:01:01:05 allele by one nucleotide substitution in the 3'UTR.

A novel HLA-C*04 variant, HLA-C*04:01:01:174, identified in a healthy individual from Greece.

HLA-C*04:01:01:174 differs from the HLA-C*04:01:01:06 allele by one nucleotide substitution in the intron 5.

A novel HLA-C*01 variant, HLA-C*01:02:01:70, identified in a healthy individual from Greece.

HLA-C*01:02:01:70 differs from the HLA-C*01:02:01:01 allele by one nucleotide substitution in the intron 4.

Genomic sequence of the novel HLA-B*41:02:01:11, and -C*08:266 alleles identified in a solid organ recipient.

HLA-B*41:02:01:11 and -C*08:266 were detected in a solid organ recipient during the HLA typing process.

Discovery of the novel HLA-A*01:01:01:112 allele in a Greek volunteer bone marrow donor.

HLA-A*01:01:01:112 differs from the HLA-A*01:01:01:01 allele by one nucleotide substitution in the 5'UTR.

Discovery of the novel HLA-B*47:01:01:07 allele in a Greek volunteer bone marrow donor.

HLA-B*47:01:01:07 differs from the HLA-B*47:01:01:03 allele by one nucleotide deletion in the 3'UTR.

Utilizing Massively Parallel Sequencing (MPS) of Human Leukocyte Antigen (HLA) Gene Polymorphism to Assess Relatedness in Deficiency Parentage Testing.

In the realm of DNA testing with legal implications, the reliability and precision of genetic markers play a pivotal role in confirming or negating paternity claims. This study aimed to assess the potential utility of human leukocyte antigen (HLA) gene polymorphism through massively parallel sequencing (MPS) technology as robust forensic markers for parentage testing involving genetic deficiencies. It sought to redefine the significance of HLA genes in this context. Data on autosomal short tandem repeat (aSTR) mutational events across 18 paternity cases involving 16 commonly employed microsatellite loci were presented. In instances where traditional aSTR analysis failed to establish statistical certainty, kinship determination was pursued via HLA genotyping, encompassing the amplification of 17 linked HLA loci. Within the framework of this investigation, phase-resolved genotypes for HLA genes were meticulously generated, resulting in the definition of 34 inherited HLA haplotypes. An impressive total of 274 unique HLA alleles, which were classified at either the field 3 or 4 level, were identified, including the discovery of four novel HLA alleles. Likelihood ratio (LR) values, which indicated the likelihood of the observed data under a true biological relationship versus no relationship, were subsequently calculated. The analysis of the LR values demonstrated that the HLA genes significantly enhanced kinship determination compared with the aSTR analysis. Combining LR values from aSTR markers and HLA loci yielded conclusive outcomes in duo paternity cases, showcasing the potential of HLA genes and MPS technology for deeper insights and diversity in genetic testing. Comprehensive reference databases and high-resolution HLA typing across diverse populations are essential. Reintegrating HLA alleles into forensic identification complements existing markers, creating a potent method for future forensic analysis.

Characterization of the novel HLA-B*51:01:01:109 allele by next generation sequencing in a Greek individual.

HLA-B*51:01:01:109 differs from HLA-B*51:01:01:01 by one nucleotide substitution in intron 5.

Characterization of the novel HLA-A*02:01:01:243 allele by next generation sequencing in a Greek individual.

HLA-A*02:01:01:243 differs from the HLA-A*02:01:01:01 allele by one nucleotide substitution in the 5'UTR.

Full-length sequence of the novel HLA-A*02:05:01:23 allele by next-generation sequencing in a Greek individual.

HLA-A*02:05:01:23 differs from HLA-A*02:05:01:01 by one nucleotide substitution in intron 6.

Full-length sequence of the novel HLA-B*18:01:01:73 allele by next generation sequencing in a Greek individual.

HLA-B*18:01:01:73 differs from HLA-B*18:01:01:02 by one nucleotide substitution in intron 2.

Identification of the novel HLA-DPB1*02:01:68 allele in a Greek individual.

Characterization of the novel HLA-DPB1*02:01:68 allele in a 27-year-old Greek hematopoietic stem cell transplant candidate.

Discovery of the novel HLA-C*07:1052 allele, a variant of HLA-C*07:02:01:01, in a Greek individual.

Characterization of the novel HLA-C*07:1052 allele in a Greek individual using next-generation sequencing.

Genomic sequence of the HLA-A*24:587 allele identified in a Greek individual.

Characterization of the novel HLA-A*24:587 allele in a Greek individual using next-generation sequencing.