An Evaluation of Copy Number Variation Detection Tools from Whole-Exome Sequencing Data

Human Mutation

Volumn 35, Issue 7, 2014, Pages 899-907

  Tan, Renjie ^a,b   Wang, Yadong ^a   Kleinstein, Sarah E ^b   Liu, Yongzhuang ^a,b   Zhu, Xiaolin ^b   Guo, Hongzhe ^a,b   Jiang, Qinghua ^a   Allen, Andrew S ^b   Zhu, Mingfu ^b,c  

^a HARBIN INSTITUTE OF TECHNOLOGY   (China)

^b DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c Tute Genomics   (United States)

Author keywords

Copy number variation; Evaluation studies; Whole exome sequencing; Whole genome sequencing

Indexed keywords

ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; COPY NUMBER VARIATION; DATA BASE; EVALUATION STUDY; EXOME; GENE SEQUENCE; HUMAN; PRIORITY JOURNAL; QUALITY CONTROL; ALGORITHM; BIOLOGY; COMPUTER PROGRAM; GENE DELETION; GENOMICS; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; INFORMATION PROCESSING; PROCEDURES; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM;

ALGORITHMS; COMPUTATIONAL BIOLOGY; DATASETS AS TOPIC; DNA COPY NUMBER VARIATIONS; EXOME; GENOMICS; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; SENSITIVITY AND SPECIFICITY; SEQUENCE DELETION; SOFTWARE;

EID: 84901982775     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22537     Document Type: Article

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