Background: Next generation ultra-sequencing technologies are starting to produce extensive quantities of data from entire human genome or exome sequences, and therefore new softw...
Gene duplications are scattered widely throughout the human genome. A single-base difference located in nearly identical duplicated segments may be misjudged as a single nucleotid...
Background: Millions of single nucleotide polymorphisms have been identified as a result of the human genome project and the rapid advance of high throughput genotyping technology...
Wei Yu, Anja Wulf, Tiebin Liu, Muin J. Khoury, Mar...
Cancer-related investigations have long been in the limelight of biomedical research. Years of effort from scientists and doctors worldwide have generated large amounts of data at...
Hong Li, Ying He, Guohui Ding, Chuan Wang, Lu Xie,...
Background: DNA copy number alterations are one of the main characteristics of the cancer cell karyotype and can contribute to the complex phenotype of these cells. These alterati...
Jing Huang, Wen Wei, Joyce Chen, Jane Zhang, Guoyi...