Polymorphism and sequence assembly

Abstract DNA sequence information is being deposited into public databases at a rapid rate, largely through worldwide genomic efforts to sequence the human genome as well as the genomes of other species. This information has enabled the identification of over a million of naturally occurring genetic variations in humans, in particular, single‐nucleotide polymorphisms (SNPs). SNPs have become a focal point in the study of the genetic basis of multifactorial diseases and traits and human evolutionary history. In this article, we will outline bioinformatic and molecular approaches for using available sequence information and technology to identify SNPs in the human population. These approaches may be extended to study SNPs in other organisms as well as other types of polymorphisms.