Down syndrome (DS) is one of the commonest disorders with huge medical and social cost.
DS is associated with number of phenotypes including congenital heart defects, leukemia …

Comparisons of human genomes show that more base pairs are altered as a result of
structural variation—including copy number variation—than as a result of point mutations …

Copy number variation (CNV) is a prevalent form of critical genetic variation that leads to an
abnormal number of copies of large genomic regions in a cell. Microarray-based …

Chromosomal microarray analysis (CMA) is performed either by array comparative genomic
hybridization or by using a single nucleotide polymorphism array. In the prenatal setting …

Detection of DNA copy number aberrations by shallow whole-genome sequencing (WGS)
faces many challenges, including lack of completion and errors in the human reference …

Recent studies suggest that thousands of genes may contribute to breast cancer
pathophysiologies when deregulated by genomic or epigenomic events. Here, we describe …

Bioconductor is a widely used open source and open development software project for the
analysis and comprehension of data arising from high-throughput experimentation in …

Gastric cancer is the second most frequent cause of cancer death worldwide, although much
geographical variation in incidence exists. Prevention and personalised treatment are …

Background Exposure to ultraviolet light is a major causative factor in melanoma, although
the relationship between risk and exposure is complex. We hypothesized that the clinical …

We describe a new method for relative quantification of 40 different DNA sequences in an
easy to perform reaction requiring only 20 ng of human DNA. Applications shown of this …