Identification of the novel HLA-C*07:1132 allele by next-generation sequencing.

The novel HLA-C*07:1132 allele differs from HLA-C*07:01:01 by one nucleotide substitution in Exon 5.

Identification of the novel HLA-A*30:221 allele by next-generation sequencing.

The novel HLA-A*30:221 allele differs from HLA-A*30:01:01:01 by one nucleotide substitution in Exon 7.

Identification of a robust DNA methylation signature for Fanconi anemia.

Fanconi anemia (FA) is a clinically variable and genetically heterogeneous cancer-predisposing disorder representing the most common bone marrow failure syndrome. It is caused by inactivating predominantly biallelic mutations involving >20 genes encoding proteins with roles in the FA/BRCA DNA repair pathway. Molecular diagnosis of FA is challenging due to the wide spectrum of the contributing gene mutations and structural rearrangements.

Identification of the novel HLA-DPA1*02:110:02 allele by next-generation sequencing.

The novel HLA-DPA1*02:110:02 allele differs from HLA-DPA1*02:01:01:06 by one nucleotide substitution in exon 4.

Identification of the novel HLA-DPA1*01:130 allele by next-generation sequencing.

The novel HLA-DPA1*01:130 allele differs from HLA-DPA1*01:03:01:03 by one nucleotide substitution in Exon 3.

Characterization of the novel HLA-DPA1*01:159 allele by sequencing-based typing.

HLA-DPA1*01:159 differs from HLA-DPA1*01:03:01:03 by one nucleotide substitution in codon 120 in exon 3.

Characterization of the novel HLA-DRB3*02:179N allele by sequencing-based typing.

HLA-DRB3*02:179N differs from DRB3*02:02:01:02 by one nucleotide substitution in codon 98 in exon 3.

Characterization of the novel HLA-DQA1*05:49 allele by sequencing-based typing.

HLA-DQA1*05:49 differs from HLA-DQA1*05:01:01:02 by one nucleotide substitution in codon 78 in exon 2.

Identification of the novel HLA-B allele, HLA-B*44:532 by next-generation sequencing.

The novel HLA-B*44:532 allele differs from HLA-B*44:02:01:01 by one nucleotide substitution in Exon 3.

Identification of the novel HLA-DPA1 allele, DPA1*02:53 by next-generation sequencing.

The novel HLA-DPA1*02:53 allele differs from HLA-DPA1*02:01:01:02 by one nucleotide substitution in exon 3.

Identification of the novel HLA-DPA1, DPA1*01:56 by next-generation sequencing.

The novel HLA-DPA1*01:56 allele differs from HLA-DPA1*01:03:01:04 by one nucleotide substitution in Exon 3.

Identification of the novel HLA-DRB1*03:01:32 in an Italian patient.

The novel HLA-DRB1*03:01:32 allele differs from HLA-DRB1*03:01:01:01 by one nucleotide substitution in exon 4.

and other HLA-C alleles, as well as and genetic variants associate with optimal response to anti-IL-17A treatment in patients with psoriasis.

: Our pharmacogenomic study evaluated the influence of the presence/absence of genetic variants of psoriasis-risk loci on the clinical response to secukinumab. Differences in the single-nucleotide polymorphism (SNP) pattern characterizing HLA-Cw6 or HLA-Cw6 patient subpopulations, showing high or low responses to secukinumab, were also analyzed. : 417 SNPs were analyzed by Next-Generation Sequencing technology, in a cohort of 62 psoriatic patients and undergone secukinumab treatment.

Characterization of the novel HLA-DPA1*01:42 allele by sequencing-based typing.

HLA-DPA1*01:42 differs from DPA1*01:03:01:02 by one nucleotide substitution in Codon 76 in Exon 2.

Characterization of the novel HLA-DRB3*01:86 allele by sequencing-based typing.

HLA-DRB3*01:86 differs from HLA-DRB3*01:01:02:01 by one nucleotide substitution in codon 225 in exon 4.

Characterization of the novel HLA-DQA1*03:15 allele by sequencing-based typing.

HLA-DQA1*03:15 differs from HLA-DQA1*03:01:01:01 by one nucleotide substitution in codon 79 in exon 2.

Characterization of the novel HLA-DRB3*02:142 allele by sequencing-based typing.

HLA-DRB3*02:142 differs from HLA-DRB3*02:02:01:02 by one nucleotide substitution in codon 98 in exon 3.

Characterization of the novel HLA-DPA1*02:26 allele by sequencing-based typing.

HLA-DPA1*02:26 differs from HLA-DPA1*02:01:01:02 by one nucleotide substitution in codon 186 in exon 4.

Characterization of the novel HLA-DQA1*01:25 allele by sequencing-based typing.

HLA-DQA1*01:25 differs from HLA-DQA1*01:02:01:01 by one nucleotide substitution in codon 8 in exon 2.

Identification of the novel HLA-A*01:289 allele in an Italian patient.

The new allele HLA-A*01:289 differs from HLA-A*01:95 by one nucleotide substitution in exon 2.