Advances in the technologies and informatics used to generate and process large biological
data sets (omics data) are promoting a critical shift in the study of biomedical sciences. While …

Patients with cancer carry somatic sequence variants in their tumour in addition to the
germline variants in their inherited genome. Although variants in protein-coding regions …

Next-generation sequencing (NGS) technologies using DNA, RNA, or methylation
sequencing have impacted enormously on the life sciences. NGS is the choice for large …

Although a fundamental understanding of the pathogenicity of most biothreat agents has
been elucidated and available treatments have increased substantially over the past …

Endometriosis, an enigmatic and chronic disorder, is considered a debilitating condition
despite being benign. Globally, this gynecologic disorder affects up to 10% of females of …

Radiogenomics designates a scientific field that addresses possible associations between
genetic germline alterations and normal tissue toxicity after radiotherapy. The ultimate aim of …

In this study, we found Cystatin SN (CST1), a type 2 cystatin subfamily member, to be highly
expressed in nasal polyps from patients with intractable chronic rhinosinusitis (CRS) with …

Background High-resolution microarray technology is routinely used in basic research and
clinical practice to efficiently detect copy number variants (CNVs) across the entire human …

Motivation Linkage disequilibrium (LD) block construction is required for research in
population genetics and genetic epidemiology, including specification of sets of single …

Rare diseases (RDs) are the clinical conditions affecting a few percentage of individuals in a
general population compared to other diseases. Limited clinical information and a lack of …