Performance comparison of SNP detection tools with illumina exome sequencing data - An assessment using both family pedigree information and sample-matched SNP array data

Nucleic Acids Research

Volumn 42, Issue 12, 2014, Pages

  Yi, Ming ^a,b   Zhao, Yongmei ^a   Jia, Li ^a   He, Mei ^c   Kebebew, Electron ^c   Stephens, Robert M ^a,b  

^a SAIC FREDERICK INC   (United States)

^b FREDERICK NATIONAL LABORATORY FOR CANCER RESEARCH   (United States)

^c NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ACCURACY; ARTICLE; BLOOD SAMPLING; DNA EXTRACTION; DNA ISOLATION; EXOME; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ANALYZER; GENETIC VARIABILITY; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN CELL; INHERITANCE; INTERMETHOD COMPARISON; LYMPHOCYTE; MICROARRAY KIT; PEDIGREE; PRIORITY JOURNAL; QUALITY CONTROL; SINGLE NUCLEOTIDE POLYMORPHISM; VALIDATION STUDY;

EXOME; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 84904006298     PISSN: 03051048     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/gku392     Document Type: Article

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