It constitutes a single-base-pair change originating from a spontaneous mutation that can be a base substitution, insertion, or deletion at a single site.
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HLA-DQA1 gene
A a member of the human leukocyte antigen (HLA) family, which contains a large number of genes involved in the immune response in humans.
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DQα AmpliType® kit
The first commercial kit, developed in the late 1980s by Cetus Corporation in Emeryville, CA.
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allele-specific hybridization
In _______, allele discrimination is based on an optimal condition allowing only the perfectly matched probe–target hybridization to form.
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Primer extension methods
These are based on the ability of DNA polymerase to incorporate specific deoxynucleotides (dNTPs) complementary to the sequence of the template DNA.
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Allele-specific oligonucleotide ligation
It is based on the condition that only the allelic probe perfectly matched to the target is ligated.
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invasive cleavage method
In the ______, allelic discrimination is based on DNA sequence-specific cleavage by endonucleases.
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de novo genome sequencing
In _________, uncharacterized genomes or characterized genomes with substantial structural variations are sequenced.
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resequencing applications
In ________, characterized genomes are sequenced. Sequence reads are assembled against an existing reference sequence to identify sequence polymorphisms.
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Target resequencing
is a useful method of resequencing that can be utilized for forensic applications. The genomic regions of interest from a DNA sample are selectively isolated through a method known as enrichment.
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Mate-pair library
It is often used in de novo sequencing applications.
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Fragment Library
It is often used for resequencing and forensic applications.
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emulsion PCR
In the ________, single-stranded DNA templates are bound to beads.
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solid-phase PCR
In _______, both forward and reverse primers are attached to a slide.
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Pyrosequencing Technology
During this method, each nucleotide substrate is introduced one at a time. Only the correct nucleotide corresponding to the template is incorporated, and a pyrophosphate is released.
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coverage or the sequencing depth
The average number of times that each nucleotide in the genomic regions of interest is sequenced is known as the _______.
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