Next-Generation Sequencing of Duplication CNVs Reveals that Most Are Tandem and Some Create Fusion Genes at Breakpoints

• Published in: American journal of human genetics Vol. 96; no. 2; pp. 208 - 220
• Main Authors: Newman, Scott, Hermetz, Karen E., Weckselblatt, Brooke, Rudd, M. Katharine
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 05.02.2015; Cell Press; Elsevier
• Subjects: Base Sequence; Bioassays; Chromosome Breakpoints; Chromosome Mapping; Chromosomes; Comparative Genomic Hybridization - methods; Cytogenetics; DNA Copy Number Variations - genetics; Gene Duplication - genetics; Gene Fusion - genetics; Genetic disorders; Genomics; Genomics - methods; Genotype & phenotype; High-Throughput Nucleotide Sequencing - methods; Humans; Molecular Sequence Data; Mutation

Interpreting the genomic and phenotypic consequences of copy-number variation (CNV) is essential to understanding the etiology of genetic disorders. Whereas deletion CNVs lead obviously to haploinsufficiency, duplications might cause disease through triplosensitivity, gene disruption, or gene fusion...