Background: Both somatic copy number alterations (CNAs) and germline copy number variants (CNVs) that are prevalent in healthy individuals can appear as recurrent changes in compa...
Background: In the last decade, biochemical studies have revealed that epigenetic modifications including histone modifications, histone variants and DNA methylation form a comple...
Xiaojiang Xu, Stephen Hoang, Marty W. Mayo, Stefan...
Background: Many newly detected point mutations are located in protein-coding regions of the human genome. Knowledge of their effects on the protein's 3D structure provides i...
Hanka Venselaar, Tim A. H. te Beek, Remko K. P. Ku...
Background: Incorrectly annotated sequence data are becoming more commonplace as databases increasingly rely on automated techniques for annotation. Hence, there is an urgent need...
Background: Population structure is an important cause leading to inconsistent results in population-based association studies (PBAS) of human diseases. Various statistical method...