Genomic analyses in cancer have been enormously impactful, leading to the identification of
driver mutations and development of targeted therapies. But the functions of the vast majority …

Objective: Rapid advances of high-throughput technologies and wide adoption of electronic
health records (EHRs) have led to fast accumulation of–omic and EHR data. These …

Abstract Background Structural variations (SVs) or copy number variations (CNVs) greatly
impact the functions of the genes encoded in the genome and are responsible for diverse …

Abstract The Ensembl Variant Effect Predictor is a powerful toolset for the analysis,
annotation, and prioritization of genomic variants in coding and non-coding regions. It …

In recent years, many software packages for identifying structural variants (SVs) using whole-
genome sequencing data have been released. When published, a new method is commonly …

Advances in modern sequencing technologies allow us to generate sufficient data to
analyze hundreds of bacterial genomes from a single machine in a single day. This potential …

Recent high-throughput techniques have generated a flood of biological data in all aspects.
The transformation and visualization of multi-dimensional and numerical gene or protein …

Motivation Structural variants are defined as genomic variants larger than 50 bp. They have
been shown to affect more bases in any given genome than single-nucleotide …

Creation of Circos plot is one of the most efficient approaches to visualize genomic data.
However, the installation and use of existing tools to make Circos plot are challenging for …

In the last decade, the revolution in sequencing technologies has deeply impacted crop
genotyping practice. New methods allowing rapid, high‐throughput genotyping of entire …