Abstract
Geneticvariationsareappearedduetodifferentfactors. Thesevariationsmayhave a negative, positive or neutral impact on human. Genetic variations which have nega-tive effects always tend to have a considerable impact on the susceptibility of causing a disease. Understanding human genetic variation is currently believed to reveal the causeofindividualsusceptibilitytodiseaseandtheseverityofdisease. Therearerisks, limitations and challenges of genetic variation detection. Approaches like sequencing technologies, diagnostic methods, scanning methods are implemented to identify and visualize genetic variations. It is difficult to favor or ignore any of them since all have both advantages and disadvantages. But it is figured that many techniques are developed based on sequencing technology. The overall objective of this survey is to investigate the current state of the genetic variation detection techniques. All these points are discussed in detail in this review. …show more content…
Genetic mutations may or may not have varying effects on health, depending on where they occur and whether they change the function of essential proteins. There may be various reasons to occur a genetic variation. According to the variation occurred in the gene, mutations are categorized. The types of mutations include:
2.3.1 Missense mutation
This type of mutation is a change in one DNA base pair that results in the substitution of one amino acid for another in the protein made by a gene [1], a type of nonsynonymous substitution.
Figure 2.3: Missense Mutation [1]
This figure 2.3 shows an example of missense mutation. One of the nucleotides (adenine) is replaced by another nucleotide (cytosine) in the DNA sequence. This results an incorrect amino acid (proline) being incorporated into the protein sequence.
2.3.2 Nonsense
Geneticvariationsareappearedduetodifferentfactors. Thesevariationsmayhave a negative, positive or neutral impact on human. Genetic variations which have nega-tive effects always tend to have a considerable impact on the susceptibility of causing a disease. Understanding human genetic variation is currently believed to reveal the causeofindividualsusceptibilitytodiseaseandtheseverityofdisease. Therearerisks, limitations and challenges of genetic variation detection. Approaches like sequencing technologies, diagnostic methods, scanning methods are implemented to identify and visualize genetic variations. It is difficult to favor or ignore any of them since all have both advantages and disadvantages. But it is figured that many techniques are developed based on sequencing technology. The overall objective of this survey is to investigate the current state of the genetic variation detection techniques. All these points are discussed in detail in this review. …show more content…
Genetic mutations may or may not have varying effects on health, depending on where they occur and whether they change the function of essential proteins. There may be various reasons to occur a genetic variation. According to the variation occurred in the gene, mutations are categorized. The types of mutations include:
2.3.1 Missense mutation
This type of mutation is a change in one DNA base pair that results in the substitution of one amino acid for another in the protein made by a gene [1], a type of nonsynonymous substitution.
Figure 2.3: Missense Mutation [1]
This figure 2.3 shows an example of missense mutation. One of the nucleotides (adenine) is replaced by another nucleotide (cytosine) in the DNA sequence. This results an incorrect amino acid (proline) being incorporated into the protein sequence.
2.3.2 Nonsense