共 112 条
[1]
Consugar MB(2015)Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing Genet Med 17 253-61
[2]
Chen K(2009)Breakdancer: an algorithm for high-resolution mapping of genomic structural variation Nat Methods 6 677-81
[3]
Wallis J(2009)Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes Genome Res 19 1270-8
[4]
McLellan M(2014)Evaluation of copy number variation detection for a snp array platform BMC Bioinforma 10 1-9
[5]
Larson D(2007)Genetic variation in human disease and a new role for copy number variants Mutat Res 622 33-41
[6]
Kalicki J(2009)Mechanisms of change in gene copy number Nat Rev Genet 10 551-64
[7]
Pohl C(2009)Genetic association analysis of copy-number variation (cnv) in human disease pathogenesis Genomics 93 22-6
[8]
McGrath S(2009)Copy number variation in human health, disease, and evolution Annu Rev Genomics Hum Genet 10 451-81
[9]
Wendl M(2013)Computational tools for copy number variation (cnv) detection using next-generation sequencing data: features and perspectives BMC Bioinforma 14 1-6
[10]
Zhang Q(2014)Inferring copy number and genotype in tumour exome data BMC Genomics 15 732-54