Related Experiment Video
Updated: Aug 30, 2026

07:17
Wild-type Blocking PCR Combined with Sanger Sequencing for Detection of Low-frequency Somatic Mutation
Published on: August 23, 2024
The Novel HLA-DQB1*06:03:60 Allele Identified by Next-Generation Sequencing and Confirmed by Nanopore Sequencing
Elham Harfouch1, Marilyne Gomes1, Aicha Hamdaoui1
1EFS Île-de-France, Laboratoire d'Histocompatibilité et d'Immunologie Leuco-Plaquettaire, Créteil, France.
HLA
|August 29, 2026
Abstract:
HLA-DQB1*06:03:60 differs from HLA-DQB1*06:03:01:01 by a single synonymous nucleotide substitution at position 174 in Exon 2.
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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.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
Single Nucleotide Polymorphisms-SNPs
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,...

