Defining “mutation” and “polymorphism” in the era of personal genomics

摘要: 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 disease susceptibility efficacy of drug responses, they blurred definitions mutation polymorphism. In era personal genomics, it is critical establish clear guidelines regarding use a reference genome. Nowadays variants called as differences comparison reference. project Single Nucleotide Polymorphisms (SNPs) mutations defined detectable >1 % or <1 % population, respectively. alternative two terms polymorphism for same event (a difference compared with reference) can lead problems classification. These impact accuracy interpretation functional relationship between state genomic sequence. We propose solve this nomenclature dilemma by defining obtained paired including germline individual Moreover, term should be accompanied qualifying prefix indicating whether occurs only somatic cells (somatic mutation) also (germline mutation). believe distinction definition will help avoid confusion among researchers support practice tissues parallel classify thus mutations.