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In the field of genetic sequencing, genotyping by sequencing, also called GBS, is a method to discover single nucleotide polymorphisms (SNP) in order to perform genotyping studies, such as genome-wide association studies . [1] GBS uses restriction enzymes to reduce genome complexity and genotype multiple DNA samples. [2]
Due to current technological limitations, almost all genotyping is partial. That is, only a small fraction of an individual's genotype is determined, such as with (epi)GBS (Genotyping by sequencing) or RADseq. New [2] mass-sequencing technologies promise to provide whole-genome genotyping (or whole genome sequencing) in the future.
Next-generation sequencing technologies such as pyrosequencing sequence less than 250 bases in a read which limits their ability to sequence whole genomes. However, their ability to generate results in real-time and their potential to be massively scaled up makes them a viable option for sequencing small regions to perform SNP genotyping.
In molecular biology, SNP array is a type of DNA microarray which is used to detect polymorphisms within a population. A single nucleotide polymorphism (SNP), a variation at a single site in DNA, is the most frequent type of variation in the genome.
The calculation of prior probabilities depends on available data from the genome being studied, and the type of analysis being performed. For studies where good reference data containing frequencies of known mutations is available (for example, in studying human genome data), these known frequencies of genotypes in the population can be used to estimate priors.
Probabilistic genotyping is the use of statistical methods and mathematical algorithms in DNA Profiling. It may be used instead of manual methods in difficult situations, such as when a DNA sample is very small or includes a mixture of multiple individuals' DNA. [ 1 ]
The genotyping is generated using next-generation sequencing technologies (including whole-genome sequencing and exome sequencing) and microarray analyses. The raw data is then statistically analyzed for population-based frequency of the variants.
DNA sequencing is the process of determining the nucleotide order of a given DNA fragment. So far, most DNA sequencing has been performed using the chain termination method developed by Frederick Sanger. This technique uses sequence-specific termination of a DNA synthesis reaction using modified nucleotide substrates.