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Characterisation of the Novel HLA-DRB1*12:119 Allele by PacBio Sequencing

Shihang Zhou1, Wanzhen Yu2, Suning Bai2

  • 1Dalian Blood Center, Dalian, Liaoning, China.

HLA
|March 30, 2026
PubMed

Keywords:
HLA‐DRB1*12:119PacBio sequencingnovel allele

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Single Nucleotide Polymorphisms-SNPs01:05

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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,...