Recent patents on high-throughput single nucleotide polymorphism (SNP) genotyping methods

Recent Pat DNA Gene Seq. 2012 Aug;6(2):122-6. doi: 10.2174/187221512801327370.

Abstract

Single nucleotide polymorphisms (SNPs) are single-base inheritable variations in a given and defined genetic location that occur in at least 1% of the population. SNPs are useful markers for genetic association studies in disease susceptibility or adverse drug reactions, in evolutionary studies and forensic science. Given the potential impact of SNPs, the biotechnology industry has focused on the development of high-throughput methods for SNP genotyping. Many highthroughput SNP genotyping technologies are currently available and many others are being patented recently. Each offers a unique combination of scale, accuracy, throughput and cost. In this review, we described some of the most important recent SNP genotyping methods and also recent patents associated with it.

Publication types

  • Review

MeSH terms

  • Genetic Markers
  • Genome, Human
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Nanopores
  • Oligonucleotide Array Sequence Analysis / methods*
  • Patents as Topic
  • Polymorphism, Single Nucleotide*
  • Sequence Analysis, DNA / methods*
  • Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization / methods

Substances

  • Genetic Markers