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Single Nucleotide Polymorphisms Genotyping and Analysis an Overview

Transparency Market Research has published a new report "SNP Genotyping and Analysis Market - Global Industry Analysis, Size, Share, Growth, Trends and Forecast, 2013 - 2019" to its report store.


Albany, NY -- (SBWIRE) -- 07/08/2015 -- Single Nucleotide Polymorphisms (SNPs) are the most frequently occurring sequence variations in the human chromosomes and have been used as important markers in many kinds of studies related to the human genome. SNPs have proven essentially important in many studies that link sequence variations in human genomes with phenotypic changes, thus shedding light on our current understanding of human physiology and the relation of many diseases with the molecular structure of one's chromosomes.

Owing to this, great deal of efforts has been applied over the past many years for developing accurate, economic and rapid techniques for analyzing SNPs and many niche methods has also been invented.

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The completion of the Human Genome project gave rise to a huge amount of data about human genome, a close analysis of which resulted in the discovery of a large number of slight variations (polymorphisms) among the population was found. Of the variations studied, the most abundant variations were that of single nucleotide polymorphisms (SNPs).

What are SNPs?

In Simple terms, a SNP is the variation of a single nucleotide at a particular location in our chromosomes. SNPs, however, are not evenly distributed across a chromosome and their frequency can vary by hundred-folds between two regions.

SNPs are most frequently located in the noncoding regions and very less frequently in the coding regions of our chromosomes. The coding regions of our chromosomes are regions that code for a protein while the noncoding regions are the places where no direct coding for proteins occurs. SNPs that occur in the noncoding regions of chromosomes do not alter already encoded proteins but play important roles as physical or genetic markers for various evolutionary genetic studies. But when SNPs occur in the coding regions of our chromosomes, they can alter the encoded proteins and also affect rates of transcription, leading to changes in the fabrication of encoded proteins. Changes made to the structure and hence the function of encoded proteins directly leads to diseases or the response for a particular drug or toxins.

Significance of SNP analysis

Thus, SNPs have been always used as molecular markers for studying many genetic related diseases and medical conditions. A close analysis and genotyping (determination of the genotype, the genetic makeup) of SNPs has always been very popular.

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The current advancements in computers has allowed for a much closer inspection of even the most complex forms of data, leading to a substantial growth and development of this field. However, the success of such studies largely depends on many factors concerning with the technological aspects of SNPs such as the cost-effectiveness, accuracy and throughput of the technique involved in genotyping.

For addressing these requirements, many robust genotyping systems have been developed by utilizing modern techniques such as improved detection sensitivity, advanced analysis designs and improved enzyme functionality. Many of these advanced systems have also been already tested in many large-scale experiments. However, even with such significant improvement, further advancements in the current technologies, as well as the development of new methods are still very necessary for routine genotyping in large samples, which must be time as well as cost-effective.

Browse the full SNP Genotyping and Analysis Market Press Release @ :


Innovations and advancements in the field of genotyping, combined with effective data mining and analyzing tools will benefit many fields. One prominent field that can hugely benefit from such progress is that of personalized medicines. The variations in an individual's response towards a particular drug is often very critical in the treatment of a condition and the ability to predict the response of the drug before or at an initial stage of treatment will prove very beneficial. Further, these advancements will, in many ways, contribute to the progress of biology and medical science at large.

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