Structural variants are genomic rearrangements larger than 50 bp accounting for around 1%
of the variation among human genomes. They impact on phenotypic diversity and play a role …

In last few years there has been rapid increase in the knowledge of epilepsy genetics.
Nowadays, it is estimated that genetic epilepsies include over than 30% of all epilepsy …

Structural variations are the greatest source of genetic variation, but they remain poorly
understood because of technological limitations. Single-molecule long-read sequencing has …

We compared whole-exome sequencing (WES) and whole-genome sequencing (WGS) in
six unrelated individuals. In the regions targeted by WES capture (81.5% of the consensus …

A growing number of druggable targets and national initiatives for precision oncology
necessitate broad genomic profiling for many cancer patients. Whole exome sequencing …

Background Whole exome sequencing (WES) has been widely accepted as a robust and
cost-effective approach for clinical genetic testing of small sequence variants. Detection of …

Background With the rapid development of whole exome sequencing (WES), an increasing
number of tools are being proposed for copy number variation (CNV) detection based on …

To assess the potential of detecting copy number variations (CNVs) directly from exome
sequencing (ES) data in diagnostic settings, we developed a CNV-detection pipeline based …

Aneuploidy, the unbalanced state of the chromosome content, represents a hallmark of most
solid tumors, including colorectal cancer. Such aneuploidies result in tumor specific genomic …

Whole-exome sequencing (WES) represents a significant breakthrough in the field of human
genetics. This technology has largely contributed to the identification of new disease …