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Identification of the Novel HLA-A*68:346 Allele in a Brazilian Individual by Next-Generation Sequencing

Emerson Fernando Garcia Machado1,2, Josiane Aparecida Linhares1, Maria Eduarda Dugonski1

  • 1Laboratory of Immunogenetics, Cajuru University Hospital, Curitiba, Parana, Brazil.

HLA
|August 14, 2026
PubMed

Abstract:

HLA-A*68:346 differs from HLA-A*68:01:01:01 by a non-synonymous substitution in exon 4.

Keywords:
HLA‐A*68:346new HLA allelenext‐generation sequencing

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Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

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