Defining "mutation" and "polymorphism" in the era of personal genomics.

ABSTRACT:

Background

The growing advances in DNA sequencing tools have made analyzing the human genome cheaper and faster. While such analyses are intended to identify complex variants, related to disease susceptibility and efficacy of drug responses, they have blurred the definitions of mutation and polymorphism.

Discussion

In the era of personal genomics, it is critical to establish clear guidelines regarding the use of a reference genome. Nowadays DNA variants are called as differences in comparison to a reference. In a sequencing project Single Nucleotide Polymorphisms (SNPs) and DNA mutations are defined as DNA variants detectable in >1 % or <1 % of the population, respectively. The alternative use of the two terms mutation or polymorphism for the same event (a difference as comp

SUBMITTER: Karki R 

PROVIDER: S-EPMC4502642 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature