Fast detection of de novo copy number variants from SNP arrays for case-parent trios

BMC Bioinformatics

Volumn 13, Issue 1, 2012, Pages

  Scharpf, Robert B ^a   Beaty, Terri H ^b   Schwender, Holger ^c   Younkin, Samuel G ^b   Scott, Alan F ^d   Ruczinski, Ingo ^b  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^c HEINRICH HEINE UNIVERSITY   (Germany)

^d JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Batch effects; Copy number variants; De novo; Genomic waves; High throughput arrays; Oral cleft; Segmentation; Trios

Indexed keywords

BATCH EFFECT; COPY NUMBER; DE NOVO; HIGH-THROUGHPUT; ORAL CLEFT; TRIOS;

HIDDEN MARKOV MODELS; IMAGE SEGMENTATION; POLYMERASE CHAIN REACTION;

GENES;

ALGORITHM; ARTICLE; CHILD; CLEFT PALATE; COMPUTER PROGRAM; COPY NUMBER VARIATION; DNA MICROARRAY; GENETICS; HUMAN; HUMAN GENOME; PARENT; REGRESSION ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICS;

ALGORITHMS; CHILD; CLEFT PALATE; DNA COPY NUMBER VARIATIONS; GENOME, HUMAN; HUMANS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PARENTS; POLYMORPHISM, SINGLE NUCLEOTIDE; REGRESSION ANALYSIS; SOFTWARE;

MLCS; MLOWN;

EID: 84870924545     PISSN: None     EISSN: 14712105     Source Type: Journal    
DOI: 10.1186/1471-2105-13-330     Document Type: Article

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