Characterisation of the Novel HLA-A*23:23:02 Allele by Next Generation Sequencing.
HLA-A*23:23:02 differs from the most closely related allele A*23:23:01 by a single synonymous substitution in exon 3.
Humans↗
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Results for “Next generation sequencing”
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Characterisation of the Novel HLA-A*01:01:01:121 Allele by Next Generation Sequencing.
The HLA-A*01:01:01:121 allele differs from HLA-A*01:01:01:01 by a single nucleotide substitution in intron 4.
Humans↗
Discovery of the Novel HLA-DPA1*02:02:02:22 Allele Through Next-Generation Sequencing.
The HLA-DPA1*02:02:02:22 allele differs from HLA-DPA1*02:02:02:01 by a single nucleotide substitution in intron 1.
Humans↗
Identification of the Novel HLA-C*08:01:36 Allele Using Next-Generation Sequencing.
The HLA-C*08:01:36 allele differs from HLA-C*08:01:01:01 allele by a single nucleotide at position 42 G > C in exon 1.
Humans↗
The Novel HLA-C*07:01:130 Allele, Identified by Next-Generation Sequencing in a Greek Haematopoietic Stem Cell Donor.
The HLA-C*07:01:130 allele differs from the HLA-C*07:01:01:01 allele by a single nucleotide substitution in exon 3.
Humans↗
Detection of HLA-DQB1*03:01:01:76 Allele by Next Generation Sequencing.
The HLA-DQB1*03:01:01:76 allele differs from HLA-DQB1*03:01:01:03 by a single nucleotide substitution in intron 5.
Humans↗
The Novel HLA-C*15:02:01:66 Allele Identified Through Next-Generation Sequencing in a Greek Individual.
The HLA-C*15:02:01:66 allele differs from HLA-C*15:02:01:01 by a single-nucleotide substitution in Intron 6.
Humans↗
Identification of the Novel HLA-B*35:606 Allele Using Next-Generation Sequencing.
The HLA-B*35:606 allele differs from the HLA-B*35:01:01:02 allele by a single nucleotide at codon 254 in exon 4.
Humans↗
Characterisation of the Novel HLA-A*23:163 Allele by Next-Generation Sequencing.
HLA-A*23:163 differs from HLA-A*23:01:01:03 by a single nucleotide substitution at position 925 of the cDNA.
Humans↗
Identification of the Novel HLA-DPA1*02:112 Allele Using Next-Generation Sequencing.
The HLA-DPA1*02:112 allele differs from the HLA-DPA1*02:02:02:01 allele by a single nucleotide at codon 29 in exon 2.
High-Throughput Nucleotide Sequencing↗
Identification of the Novel HLA-B*57:212 Allele by Next-Generation Sequencing.
HLA-B*57:212 differs from HLA-B*57:01:01:01 by a single nucleotide substitution in exon 5.
Humans↗
Characterisation of the Novel HLA-A*03:541 Allele by Next-Generation Sequencing.
HLA-A*03:541 differs from HLA-A*03:01:01:01 by a single nucleotide substitution at position 728 of the cDNA in exon 4.
Humans↗
Identification of the Novel HLA-DQB1*02:02:41 Allele by Next-Generation Sequencing.
HLA-DQB1*02:02:41 differs from HLA-DQB1*02:02:01:01 by one synonymous nucleotide substitution at Codon 39 in Exon 2.
Humans↗
The Next Step: The Role of Metagenomic Next-Generation Sequencing in Microbial Detection of Culture-Negative Cardiovascular Infections.
Cardiovascular infections, including those that involve native and prosthetic heart valves, implantable cardiac devices, mechanical circulatory assist devices, and vascular grafts, are associated with significant morbidity and mortality risks. Optimal management of these complex infections requires pathogen-directed antimicrobial therapy. However, standard culture-based methods often fail to identify causative organisms due to prior antimicrobial use, infections due to fastidious organisms, or biofilm-associated infections. Emerging evidence suggests that microbial cell-free DNA (mcfDNA) and metagenomic testing can enhance pathogen detection, particularly in culture-negative cases. However, their results require careful clinical interpretation, often necessitating input from infectious diseases specialists. In this review, we examine published evidence regarding metagenomic testing for cardiovascular infections and its impact on patient care. We propose a framework for microbiological adjudication of mcfDNA results, introduce standardized definitions for clinical impact assessment, and provide guidance on integrating mcfDNA testing into diagnostic evaluation of patients with culture-negative cardiovascular infections.
Humans↗
Identification of the Novel HLA-DQA1*05:01:21 Allele by Next-Generation Sequencing.
HLA-DQA1*05:01:21 differs from HLA-DQA1*05:01:01:02 by one nucleotide substitution in codon 198 (TGC > TGT) in exon 4.
Humans↗
Identification of the Novel HLA-B*38:125 Allele by Next-Generation Sequencing.
HLA-B*38:125 differs from HLA-B*38:02:01:01 by one nucleotide substitution in codon 248 (GTG>ATG) in exon 4.
Humans↗
Identification of the Novel HLA-A*31:239 Allele by Next-Generation Sequencing.
HLA-A*31:239 has a single nucleotide substitution at position 329C>G when compared to the A*31:01:02:01 allele.
Humans↗
Characterisation of the Novel HLA-A*24:642 Allele Using New Next-Generation Sequencing Methods.
HLA-A*24:642 differs from HLA-A*24:02:01:01 by a single nucleotide substitution at position 76 T>C in exon 2.
Humans↗