Identification of the Novel HLA-DQA1*05:121 Allele by Next-Generation Sequencing

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Chiara Sindici1, Donatella Londero1

  • 1Lab. di Immunogenetica e RR UD01-IBMDR, Dip. Medicina Trasfusionale Azienda Sanitaria Universitaria Friuli Centrale, Udine, Italy.

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|September 3, 2025
PubMed

Abstract:

The HLA-DQA1*05:121 allele differs from the HLA-DQA1*05:05:01:01 allele by a single nucleotide in exon 3.

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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 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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