Large Inverted Duplications in the Human Genome Form via a Fold-Back Mechanism

PLoS Genetics

Volumn 10, Issue 1, 2014, Pages

  Hermetz, Karen E ^a   Newman, Scott ^a   Conneely, Karen N ^a,b   Martin, Christa L ^a,f   Ballif, Blake C ^c,g   Shaffer, Lisa G ^c,g   Cody, Jannine D ^d,e   Rudd, M Katharine ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b EMORY UNIVERSITY   (United States)

^c PERKINELMER INC   (United States)

^d UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^e Chromosome 18 Registry and Research Society   (United States)

^f GEISINGER HEALTH SYSTEM   (United States)

^g Paw Print Genetics Genetic Veterinary Sciences Inc   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME BREAKAGE; COHORT ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DNA REPLICATION; DOUBLE STRANDED DNA BREAK; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DUPLICATION; GENE FREQUENCY; GENE MAPPING; GENE REARRANGEMENT; GENE SEQUENCE; GENE TRANSLOCATION; GENETIC PROCEDURES; HOMOLOGOUS RECOMBINATION; HUMAN; INVERTED DUPLICATION; NEXT GENERATION SEQUENCING; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY;

AUTISTIC DISORDER; CHROMOSOME BREAKPOINTS; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; DNA REPLICATION; GENE AMPLIFICATION; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTELLECTUAL DISABILITY; SEGMENTAL DUPLICATIONS, GENOMIC;

EID: 84896698672     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1004139     Document Type: Article

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