Structural variation mutagenesis of the human genome: Impact on disease and evolution

Environmental and Molecular Mutagenesis

Volumn 56, Issue 5, 2015, Pages 419-436

  Lupski, James R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Chromosome biology; Copy number variant; DNA replication; Recombination; Structural variant

Indexed keywords

CENTRAL NERVOUS SYSTEM DISEASE; CHROMOSOME DISORDER; CLINICAL PRACTICE; COPY NUMBER VARIATION; DNA STRUCTURE; ECOLOGICAL GENETICS; GAIN OF FUNCTION MUTATION; GENE DOSAGE; GENE MUTATION; GENE REARRANGEMENT; GENETIC DISORDER; GENETIC TRAIT; GENETIC TRANSFECTION; GENETIC VARIABILITY; GENOME ANALYSIS; GENOMIC INSTABILITY; HEALTH CARE; HOMOLOGOUS RECOMBINATION; HUMAN; HUMAN CHROMOSOME; HUMAN GENETICS; HUMAN GENOME; MOLECULAR EVOLUTION; MUTAGENESIS; MYELIN DEFICIENCY; NONHUMAN; POLYMERASE CHAIN REACTION; POLYTENE CHROMOSOME; REGULATORY MECHANISM; REVIEW; SEGMENTAL DUPLICATION; SINGLE NUCLEOTIDE POLYMORPHISM; ZYGOTE; ANIMAL; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS;

ANIMALS; EVOLUTION, MOLECULAR; GENE DOSAGE; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; GENOMIC STRUCTURAL VARIATION; HUMANS; MUTAGENESIS;

EID: 84931577887     PISSN: 08936692     EISSN: 10982280     Source Type: Journal    
DOI: 10.1002/em.21943     Document Type: Review

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