Mechanisms of Formation of Structural Variation in a Fully Sequenced Human Genome

Human Mutation

Volumn 34, Issue 2, 2013, Pages 345-354

  Pang, Andy Wing Chun ^a,b   Migita, Ohsuke ^c   Macdonald, Jeffrey R ^b   Feuk, Lars ^d   Scherer, Stephen W ^a,b  

^a UNIVERSITY OF TORONTO   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^d UPPSALA UNIVERSITY   (Sweden)

Author keywords

Breakpoint; Inversion polymorphism; Mutational mechanism; Personal genomics; Structural variation

Indexed keywords

CHYMOTRYPSINOGEN; DNA MINISATELLITE; MICROSATELLITE DNA;

ARTICLE; DNA END JOINING REPAIR; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC VARIABILITY; GENOTYPE; HOMOLOGOUS RECOMBINATION; HUMAN; HUMAN GENOME; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; RETROPOSON; SINGLE NUCLEOTIDE POLYMORPHISM; VARIABLE NUMBER OF TANDEM REPEAT;

CHROMOSOME DELETION; CHROMOSOME INVERSION; CHROMOSOMES, HUMAN, PAIR 16; CHYMOTRYPSIN; CHYMOTRYPSINOGEN; GENE FREQUENCY; GENETIC VARIATION; GENOME, HUMAN; HAPLOTYPES; HUMANS; MICROSATELLITE REPEATS; MINISATELLITE REPEATS; RETROELEMENTS; SEQUENCE ANALYSIS, DNA; TRISOMY;

EID: 84873081003     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22240     Document Type: Article

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