Description: The SNP (Single Nucleotide Polymorphism) call refers to the process of identifying variations in the nucleotide sequence of DNA, where a single nucleotide is replaced by another at a specific position. These polymorphisms are the most common genetic variations in the human genome and can influence how individuals respond to diseases, medications, and other environmental factors. SNP identification is performed from sequencing data, which can come from various techniques such as next-generation sequencing (NGS) or Sanger sequencing. This process involves comparing DNA sequences from different individuals to detect differences at a single nucleotide. The SNP call is crucial in genetic association studies, where specific SNPs are sought to correlate with phenotypic traits or diseases. Additionally, SNP identification can aid in researching genetic diversity and understanding species evolution. In summary, the SNP call is an essential component in bioinformatics, allowing researchers to explore genetic variability and its impact on health and disease.
History: The identification of SNPs began to gain attention in the 1990s when more advanced sequencing techniques were developed. In 2001, the Human Genome Project provided a complete map of human DNA, facilitating the identification of SNPs. Since then, numerous studies have been conducted to explore the relationship between SNPs and various diseases, leading to an increase in genetic research.
Uses: SNPs are used in genetic association studies to identify variations that may be related to diseases. They are also fundamental in pharmacogenomics, where the impact of SNPs on drug response is studied. Additionally, they are used in genetic diversity research and in the selective breeding of plants and animals.
Examples: An example of SNP use is the study of the relationship between certain SNPs and the predisposition to diseases such as type 2 diabetes. Another example is research in pharmacogenomics, where SNPs are analyzed to predict the effectiveness of medications in patients with different genetic profiles.
