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Single Nucleotide Polymorphisms ( SNPs ): Identification and Scoring

Pui–Yan Kwok

Abstract

Abstract Single nucleotide polymorphisms (SNPs) are the most abundant DNA sequence variations in the human genome. Numerous methods have been developed to identify and score them. A large set of human SNPs have been identified and mapped to the reference human genome sequence. The SNP markers are useful for the study of the genetic basis of many human diseases.

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Key concepts: Single-nucleotide polymorphism, Genetics, Human genome, SNP, Biology, Tag SNP, SNP genotyping, SNP array