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

BMC Medical Genomics

Volumn 8, Issue 1, 2015, Pages

  Karki, Roshan ^a   Pandya, Deep ^a   Elston, Robert C ^b   Ferlini, Cristiano ^a  

^a DANBURY HOSPITAL   (United States)

^b CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

DNA sequencing; DNA variants; Human genome; Personal genomics; Precision medicine

Indexed keywords

DNA;

DNA SEQUENCE; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOME ANALYSIS; GENOMICS; GENOTYPE; GERMLINE MUTATION; HUMAN; MEDICAL TERMINOLOGY; NEXT GENERATION SEQUENCING; PERSONAL GENOMICS; PERSONALIZED MEDICINE; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION; DNA MUTATIONAL ANALYSIS; GENETICS; HUMAN GENOME; MUTATION; NOMENCLATURE; PROCEDURES;

DNA; DNA MUTATIONAL ANALYSIS; GENOME, HUMAN; GENOMICS; GENOTYPE; GERM-LINE MUTATION; HUMANS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; TERMINOLOGY AS TOPIC;

EID: 84937035467     PISSN: None     EISSN: 17558794     Source Type: Journal    
DOI: 10.1186/s12920-015-0115-z     Document Type: Review

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