EXCAVATOR: Detecting copy number variants from whole-exome sequencing data

Genome Biology

Volumn 14, Issue 10, 2013, Pages

  Magi, Alberto ^a   Tattini, Lorenzo ^a,b   Cifola, Ingrid ^c   D'Aurizio, Romina ^d   Benelli, Matteo ^e   Mangano, Eleonora ^c   Battaglia, Cristina ^c,f   Bonora, Elena ^g   Kurg, Ants ^h   Seri, Marco ^g   Magini, Pamela ^g   Giusti, Betti ^a   Romeo, Giovanni ^g   Pippucci, Tommaso ^g   Bellis, Gianluca De ^c   Abbate, Rosanna ^a   Gensini, Gian Franco ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

^b G GASLINI INSTITUTE   (Italy)

^c CNR   (Italy)

^d INSTITUTE OF CLINICAL PHYSIOLOGY   (Italy)

^e CAREGGI UNIVERSITY HOSPITAL   (Italy)

^f UNIVERSITY OF MILAN   (Italy)

^g UNIVERSITY OF BOLOGNA   (Italy)

^h UNIVERSITY OF TARTU   (Estonia)

Author keywords

[No Author keywords available]

Indexed keywords

ALGORITHM; ARTICLE; CLASSIFICATION; COMPUTER PROGRAM; CONTROLLED STUDY; COPY NUMBER VARIATION; GENE DOSAGE; GENETIC PROCEDURES; HIDDEN MARKOV MODEL; HUMAN; INTERMETHOD COMPARISON; VALIDATION PROCESS; WHOLE EXOME SEQUENCING; BIOLOGY; EXOME; GENETICS; GENOME; GENOMICS; HIGH THROUGHPUT SEQUENCING; INTELLECTUAL IMPAIRMENT; MELANOMA; METHODOLOGY; PATHOLOGY; PROBABILITY; RECEIVER OPERATING CHARACTERISTIC; REPRODUCIBILITY; SINGLE NUCLEOTIDE POLYMORPHISM;

ALGORITHMS; COMPUTATIONAL BIOLOGY; DNA COPY NUMBER VARIATIONS; EXOME; GENOME; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTELLECTUAL DISABILITY; MARKOV CHAINS; MELANOMA; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS; ROC CURVE; SOFTWARE;

EID: 84886541754     PISSN: None     EISSN: 1474760X     Source Type: Journal    
DOI: 10.1186/gb-2013-14-10-r120     Document Type: Article

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