Whole genome sequencing (WGS) is becoming the preferred method for molecular genetic
diagnosis of rare and unknown diseases and for identification of actionable cancer drivers …

Exome sequencing (ES) is a recommended first-tier diagnostic test for many rare monogenic
diseases. It allows for the detection of both single-nucleotide variants (SNVs) and copy …

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

Individuals with autism spectrum disorder (ASD) or related neurodevelopmental disorders
(NDDs) often carry disruptive mutations in genes that are depleted of functional variation in …

Whole-Exome Sequencing (WES) has proven valuable in the characterization of underlying
genetic defects in most rare diseases (RDs). Copy Number Variants (CNVs) were initially …

Red blood cells (RBC) are commonly known as cells with no nucleus or mitochondria and
are assumed to be a transportation vehicle. This study confirms that RBC contain long DNA …

Recent studies have highlighted the significant role of copy number variants (CNVs) in
phenotypic diversity, environmental adaptation and species divergence across eukaryotes …

Copy-number variants (CNVs) play a substantial role in the molecular pathogenesis of
hereditary disease and cancer, as well as in normal human interindividual variation …

Background An increasing number of trials indicate that treatment outcomes in cancer
patients with metastatic disease are improved when targeted treatments are matched with …

Copy number variation (CNV) can drive rapid evolution in changing environments. In
microbial pathogens, such adaptation is a key factor underpinning epidemics and …