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Article

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

BMC medical genomics - 15 Jul 2015

Karki Roshan, Pandya Deep, Elston Robert C, Ferlini Cristiano

Abstract excerpt

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...

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Identifiers

PMID: 26173390
DOI: 10.1186/s12920-015-0115-z
PMCID: PMC4502642

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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