Ohnologs are overrepresented in pathogenic copy number mutations

Proceedings of the National Academy of Sciences of the United States of America

Volumn 111, Issue 1, 2014, Pages 361-366

  McLysaght, Aoife ^a   Makino, Takashi ^b   Grayton, Hannah M ^c   Tropeano, Maria ^c   Mitchell, Kevin J ^a   Vassos, Evangelos ^c   Collier, David A ^c,d  

^a TRINITY COLLEGE DUBLIN   (Ireland)

^b TOHOKU UNIVERSITY   (Japan)

^c KING'S COLLEGE LONDON   (United Kingdom)

^d ELI LILLY AND COMPANY   (United States)

Author keywords

Evolution; Microdeletion; Microduplication; Neurodevelopmental

Indexed keywords

ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; GENE DUPLICATION; GENE MAPPING; GENE MUTATION; GENETIC SELECTION; HUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RARE DISEASE;

EVOLUTION; MICRODELETION; MICRODUPLICATION; NEURODEVELOPMENTAL;

AUTISTIC DISORDER; CHROMOSOME MAPPING; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; DNA COPY NUMBER VARIATIONS; EPILEPSY; GENE DOSAGE; GENE DUPLICATION; GENETIC VARIATION; GENOME, HUMAN; HUMANS; INTELLECTUAL DISABILITY; MUTATION; NERVOUS SYSTEM DISEASES; PHENOTYPE; POLYMORPHISM, GENETIC; SCHIZOPHRENIA; SEIZURES;

EID: 84891910353     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1309324111     Document Type: Article

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