Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

Genome Biology

Volumn 18, Issue 1, 2017, Pages

  Collins, Ryan L ^a,b,c   Brand, Harrison ^a,c   Redin, Claire E ^a,c   Hanscom, Carrie ^a,c   Antolik, Caroline ^a,c   Stone, Matthew R ^a,c   Glessner, Joseph T ^a,c   Mason, Tamara ^c   Pregno, Giulia ^d   Dorrani, Naghmeh ^e   Mandrile, Giorgia ^d   Giachino, Daniela ^d   Perrin, Danielle ^c   Walsh, Cole ^c   Cipicchio, Michelle ^c   Costello, Maura ^c   Stortchevoi, Alexei ^a,c   An, Joon Yong ^f   Currall, Benjamin B ^a,c   Seabra, Catarina M ^a,c,g   Ragavendran, Ashok ^a,c   Margolin, Lauren ^c   Martinez Agosto, Julian A ^e   Lucente, Diane ^a   Levy, Brynn ^h   Sanders, Stephan J ^f   Wapner, Ronald J ⁱ   Quintero Rivera, Fabiola ^e   Kloosterman, Wigard ^j   Talkowski, Michael E ^a,b,c   more..

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^d UNIVERSITY OF TURIN   (Italy)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g UNIVERSITY OF PORTO   (Portugal)

^h Och Spine at New York Presbyterian Hospitals   (United States)

ⁱ NewYork Presbyterian Hospital   (United States)

^j UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

more..

Author keywords

Autism; Chromoanagenesis; Chromothripsis; Complex chromosomal rearrangement; Copynumber variation; Germline mutation; Inversion; Neurodevelopmental disorders; Structural variation; Whole genome sequencing

Indexed keywords

ARTICLE; AUTISM; CHROMOANAGENESIS; CHROMOANASYNTHESIS; CHROMOPLEXY; CHROMOSOME BREAKAGE; CHROMOSOME INVERSION; CHROMOSOME REARRANGEMENT; CHROMOTHRIPSIS; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; FEMALE; GENE IDENTIFICATION; GENE LIBRARY; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; GENETIC CODE; GENETIC VARIABILITY; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; GERM LINE; HUMAN; HUMAN GENOME; MAJOR CLINICAL STUDY; MALE; MORBIDITY; REGULATOR GENE; SOMATIC CHROMOANASYNTHESIS; CHROMOSOME ABERRATION; GENE ORDER; GENE REARRANGEMENT; GENETIC PREDISPOSITION; GENETICS; GENOMICS; HIGH THROUGHPUT SEQUENCING; MUTATION; PROCEDURES;

AUTISM SPECTRUM DISORDER; CHROMOSOME ABERRATIONS; CHROMOSOME INVERSION; CHROMOTHRIPSIS; GENE ORDER; GENE REARRANGEMENT; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION;

EID: 85014470424     PISSN: 14747596     EISSN: 1474760X     Source Type: Journal    
DOI: 10.1186/s13059-017-1158-6     Document Type: Article

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