Copy number variation in human health, disease, and evolution

Annual Review of Genomics and Human Genetics

Volumn 10, Issue , 2009, Pages 451-481

  Zhang, Feng ^a   Gu, Wenli ^a,d   Hurles, Matthew E ^b   Lupski, James R ^a,c  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^c TEXAS CHILDREN S HOSPITAL   (United States)

^d UNIVERSITY OF MUNICH   (Germany)

Author keywords

FoSTeS; Genomic disorder; Genomotype phenotype correlations; MMBIR; NAHR; NHEJ

Indexed keywords

ALPHA SYNUCLEIN; AMYLOID BETA PROTEIN; AMYLOID PRECURSOR PROTEIN; BETA DEFENSIN 2; CD16 ANTIGEN; COMPLEMENT COMPONENT C4; DEFENSIN; DNA FRAGMENT; DOUBLE STRANDED DNA; FC RECEPTOR; GENOMIC DNA; GUANOSINE TRIPHOSPHATASE; METHYL CPG BINDING PROTEIN 2; RNA BINDING PROTEIN;

ACQUIRED IMMUNE DEFICIENCY SYNDROME; ALPHA THALASSEMIA; ALZHEIMER DISEASE; AUTISM; AUTOSOMAL DOMINANT DISORDER; AZOOSPERMIA; BACTERIAL ARTIFICIAL CHROMOSOME; BEHAVIOR DISORDER; BETA THALASSEMIA; BRAIN DISEASE; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; COLON CROHN DISEASE; COLOR BLINDNESS; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL ADRENAL HYPERPLASIA; CONGENITAL DISORDER; CROHN DISEASE; CYSTIC FIBROSIS; DE LANGE SYNDROME; DEVELOPMENTAL DISORDER; DIGEORGE SYNDROME; DIPLOIDY; DNA FLANKING REGION; DNA REPAIR; DNA REPLICATION; DNA SEQUENCE; DNA TRANSPOSITION; DOUBLE STRANDED DNA BREAK; DOWN SYNDROME; DUCHENNE MUSCULAR DYSTROPHY; EXON; FAILURE TO THRIVE; GENE COPY NUMBER VARIATION; GENE DELETION; GENE DISRUPTION; GENE DUPLICATION; GENE EXPRESSION; GENE FUSION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENE NUMBER; GENE REARRANGEMENT; GENE REPLICATION; GENE SWITCHING; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC POLYMORPHISM; GENETIC RECOMBINATION; GENETIC RISK; GENETIC VARIABILITY; GENOME; GENOTYPE; GLOMERULONEPHRITIS; HEMOPHILIA A; HEREDITARY MOTOR SENSORY NEUROPATHY; HIGH THROUGHPUT SCREENING; HOMOLOGOUS RECOMBINATION; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; HUNTER SYNDROME; HYPERALDOSTERONISM; HYPERTENSION; HYPOPARATHYROIDISM; ICHTHYOSIS; INDEL MUTATION; INFECTION SENSITIVITY; KIDNEY DISEASE; MACROCEPHALY; MACROSOMIA; MARFAN SYNDROME; MEIOSIS; MENTAL DEFICIENCY; MICROCEPHALY; MILLER DIEKER SYNDROME; MISSENSE MUTATION; MITOSIS; MOLECULAR EVOLUTION; MOLECULAR GENETICS; MOSAICISM; MUSCULAR DYSTROPHY; NAIL PATELLA SYNDROME; NEPHRONOPHTHISIS; NEUROPATHY; NOONAN SYNDROME; OPEN READING FRAME; PANCREATITIS; PARKINSON DISEASE; PELIZAEUS MERZBACHER DISEASE; PERCEPTION DEAFNESS; PITUITARY DWARFISM; PSORIASIS; PSYCHOSIS; REVIEW; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM; SMITH MAGENIS SYNDROME; SOTOS SYNDROME; SYSTEMIC LUPUS ERYTHEMATOSUS; VELOCARDIOFACIAL SYNDROME; WILLIAMS BEUREN SYNDROME; X CHROMOSOME LINKED DISORDER;

ANIMALS; COMPARATIVE GENOMIC HYBRIDIZATION; DISEASE; DNA; DNA REPLICATION; EVOLUTION, MOLECULAR; GENE DOSAGE; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 70350221909     PISSN: 15278204     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.genom.9.081307.164217     Document Type: Review

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