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A Novel HLA Class I Allele, HLA-C*12:424, Identified Using Next-Generation Sequencing

Jonathon Glover1, Melanie Hagerty1, Eric Pimpinella1

  • 1Histocompatibility Laboratory Services, American Red Cross, Philadelphia, Pennsylvania, USA.

HLA
|November 6, 2024
PubMed

Abstract:

Discovery of a novel HLA class I allele, HLA-C*12:424, identified using two NGS methods.

Keywords:
HLA‐Cnext‐generation sequencingnovel allele

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...

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