Identification of copy number variants in whole-genome data using reference coverage profiles

Frontiers in Genetics

Volumn 5, Issue FEB, 2015, Pages

  Glusman, Gustavo ^a   Severson, Alissa ^a   Dhankani, Varsha ^a   Robinson, Max ^a   Farrah, Terry ^a   Mauldin, Denise E ^a   Stittrich, Anna B ^a   Ament, Seth A ^a   Roach, Jared C ^a   Brunkow, Mary E ^a   Bodian, Dale L ^b   Vockley, Joseph G ^b   Shmulevich, Ilya ^a   Niederhuber, John E ^b   Hood, Leroy ^a  

^a INSTITUTE FOR SYSTEMS BIOLOGY   (United States)

^b BETTY AND GUY BEATTY CENTER FOR INTEGRATED RESEARCH   (United States)

Author keywords

Clinical genomics; Depth of coverage; Signal processing; Structural variation; Whole genome Sequencing

Indexed keywords

ARTICLE; COPY NUMBER VARIATION; FEMALE; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION PROFILING; GENE LIBRARY; GENE SEQUENCE; GENETIC ALGORITHM; GENETIC PROCEDURES; GENETIC VARIABILITY; GENOME ANALYSIS; GENOMICS; GENOTYPE; HUMAN; MALE; POPULATION GENETICS; REFERENCE COVERAGE PROFILE; SENSITIVITY AND SPECIFICITY; SIGNAL PROCESSING;

EID: 84923579623     PISSN: None     EISSN: 16648021     Source Type: Journal    
DOI: 10.3389/fgene.2015.00045     Document Type: Article

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