A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

Genome Research

Volumn 19, Issue 9, 2009, Pages 1579-1585

  Mefford, Heather C ^a,b   Cooper, Gregory M ^b   Zerr, Troy ^b   Smith, Joshua D ^b   Baker, Carl ^b   Shafer, Neil ^b   Thorland, Erik C ^c   Skinner, Cindy ^d   Schwartz, Charles E ^d   Nickerson, Deborah A ^b   Eichler, Evan E ^b  

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

^b UNIVERSITY OF WASHINGTON   (United States)

^c MAYO CLINIC   (United States)

^d GREENWOOD GENETIC CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTISM; CHILD; CHROMOSOME 15Q; CHROMOSOME 16P; COGNITIVE DEFECT; COST BENEFIT ANALYSIS; DISEASE ASSOCIATION; GENE DELETION; GENE DUPLICATION; GENE LOCUS; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HAPPY PUPPET SYNDROME; HUMAN; MAJOR CLINICAL STUDY; MEDICAL RESEARCH; MENTAL DEFICIENCY; PENETRANCE; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ALGORITHMS; AUTISTIC DISORDER; CHILD; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 16; COGNITION DISORDERS; COMPUTATIONAL BIOLOGY; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENETIC VARIATION; GENOME, HUMAN; GENOTYPE; HUMANS; MENTAL RETARDATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PRADER-WILLI SYNDROME; TIME FACTORS;

EID: 69749104320     PISSN: 10889051     EISSN: 15495469     Source Type: Journal    
DOI: 10.1101/gr.094987.109     Document Type: Article

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