Population analysis of large copy number variants and hotspots of human genetic disease

American Journal of Human Genetics

Volumn 84, Issue 2, 2008, Pages 148-161

  Itsara, Andy ^a   Cooper, Gregory M ^a   Baker, Carl ^a   Girirajan, Santhosh ^a   Li, Jun ^b   Absher, Devin ^c   Krauss, Ronald M ^d   Myers, Richard M ^c   Ridker, Paul M ^e   Chasman, Daniel I ^e   Mefford, Heather ^a   Ying, Phyllis ^a   Nickerson, Deborah A ^a   Eichler, Eva E ^a,f  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^c HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY   (United States)

^d CHILDREN S HOSPITAL OAKLAND RESEARCH INSTITUTE   (United States)

^e BRIGHAM AND WOMEN S HOSPITAL   (United States)

^f HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; DNA POLYMORPHISM; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC VARIABILITY; GEOGRAPHIC DISTRIBUTION; HUMAN; MAJOR CLINICAL STUDY; POPULATION SIZE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; DNA MICROARRAY; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENETIC POLYMORPHISM; GENETICS; GENOTYPE; GEOGRAPHY; HUMAN GENOME; POPULATION GENETICS;

GENE DOSAGE; GENE DUPLICATION; GENETIC DISEASES, INBORN; GENETIC VARIATION; GENETICS, POPULATION; GENOME, HUMAN; GENOTYPE; GEOGRAPHY; HUMANS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE DELETION;

EID: 62649088108     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2008.12.014     Document Type: Article

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