Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

European Journal of Human Genetics

Volumn 22, Issue 1, 2014, Pages 79-87

  Wiszniewska, Joanna ^a   Bi, Weimin ^a   Shaw, Chad ^a   Stankiewicz, Pawel ^a   Kang, Sung Hae L ^b   Pursley, Amber N ^a   Lalani, Seema ^a   Hixson, Patricia ^a   Gambin, Tomasz ^c   Tsai, Chun Hui ^d,e   Bock, Hans Georg ^f   Descartes, Maria ^g   Probst, Frank J ^a   Scaglia, Fernando ^a   Beaudet, Arthur L ^a   Lupski, James R ^a   Eng, Christine ^a   Wai Cheung, Sau ^a   Bacino, Carlos ^a   Patel, Ankita ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b ABBOTT NORTHWESTERN HOSPITAL   (United States)

^c WARSAW UNIVERSITY OF TECHNOLOGY   (Poland)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e Children's Hospital Colorado   (United States)

^f UNIVERSITY OF MISSISSIPPI SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

absence of heterozygosity; array CGH; medically actionable variants; SNP; uniparental disomy

Indexed keywords

OLIGONUCLEOTIDE;

ARRAY COMPARATIVE GENOMIC HYBRIDIZATION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOMAL MICROARRAY ANALYSIS COMPREHENSIVE; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NEUTRAL ABSENCE OF HETEROZYGOSITY; COPY NUMBER VARIATION; DIAGNOSTIC KIT; DIAGNOSTIC TEST; DNA MICROARRAY; EXON; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE TARGETING; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC PROCEDURES; GENETIC SCREENING; GENOME; GENOTYPE; HETEROZYGOSITY; HUMAN; HYPERORNITHINEMIA HYPERAMMONEMIA HOMOCITRULLINURIA SYNDROME; LIMIT OF DETECTION; MALE; MICROCEPHALY; PRIORITY JOURNAL; SEVERE COMBINED IMMUNODEFICIENCY; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY; USHER SYNDROME; GENETICS; GENOMICS; GENOTYPING TECHNIQUE; HETEROZYGOTE; HUMAN GENOME; PROCEDURES;

COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; GENOME, HUMAN; GENOMICS; GENOTYPING TECHNIQUES; HETEROZYGOTE; HUMANS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84890801002     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.77     Document Type: Article

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