Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort

Genetics in Medicine

Volumn 17, Issue 8, 2015, Pages 623-629

  Retterer, Kyle ^a   Scuffins, Julie ^a   Schmidt, Daniel ^a   Lewis, Rachel ^a   Pineda Alvarez, Daniel ^a   Stafford, Amanda ^a   Schmidt, Lindsay ^a   Warren, Stephanie ^a   Gibellini, Federica ^a   Kondakova, Anastasia ^a   Blair, Amanda ^a   Bale, Sherri ^a   Matyakhina, Ludmila ^a   Meck, Jeanne ^a   Aradhya, Swaroop ^a   Haverfield, Eden ^a  

^a GENEDX   (United States)

Author keywords

array CGH; deletion; duplication; exome; nextgeneration sequencing

Indexed keywords

ARTICLE; BIOINFORMATICS; CHROMOSOMAL MICROARRAY ANALYSIS; CLINICAL ASSESSMENT; COHORT ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; EXOME; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ALGORITHM; GENETIC CODE; GENETIC VARIABILITY; HUMAN; MICROARRAY ANALYSIS; NEXT GENERATION SEQUENCING; ALGORITHM; BIOLOGY; BLOOD; GENETIC VARIATION; GENETICS; HIGH THROUGHPUT SEQUENCING; PROCEDURES;

DNA;

ALGORITHMS; COHORT STUDIES; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTATIONAL BIOLOGY; DNA; DNA COPY NUMBER VARIATIONS; EXOME; GENETIC VARIATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS;

EID: 84938694120     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.160     Document Type: Article

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