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 …

In recent years, the increasing awareness that somatic mutations and other genetic
aberrations drive human malignancies has led us within reach of personalized cancer …

We have systematically compared copy number variant (CNV) detection on eleven
microarrays to evaluate data quality and CNV calling, reproducibility, concordance across …

Current methods for detection of copy number variants (CNV) and aberrations (CNA) from
targeted sequencing data are based on the depth of coverage of captured exons. Accurate …

The identification of rare inherited and de novo copy number variations (CNVs) in human
subjects has proven a productive approach to highlight risk genes for autism spectrum …

Background Neuroblastoma is characterized by substantial clinical heterogeneity. Despite
intensive treatment, the survival rates of high-risk neuroblastoma patients are still …

Copy number variation (CNV) might be one of the main contributors to phenotypic diversity
and evolutionary adaptation in animals and plants, employing a wide variety of mechanisms …

Nuclear genomes of human, animals, and plants are organized into subunits called
chromosomes. When isolated into aqueous suspension, mitotic chromosomes can be …

Copy number variants (CNVs) at chromosome 16p13. 11 have been associated with a
range of neurodevelopmental disorders including autism, ADHD, intellectual disability and …

Distinct molecular subtypes of breast carcinomas have been identified, but translation into
clinical use has been limited. We have developed two platform-independent algorithms to …