Clinical exome sequencing (CES) is a routine diagnostic tool for rare Mendelian genetic disorders. The reported rate for identification of the causative single nucleotide variant (SNV) or ...

Chromosome instability leading to aneuploidy and accumulation of copy number gains or losses is a hallmark of cancer. Copy number alteration (CNA) signatures are increasingly used for cancer risk ...

Comparative genomic hybridization (CGH) was developed to identify pathogenic DNA copy-number changes (e.g., duplications, deletions) on a genome-wide scale, and to map these changes to genomic ...

Open Health Imaging Foundation Viewer: An Extensible Open-Source Framework for Building Web-Based Imaging Applications to Support Cancer Research Allele-specific copy number alteration (CNA) analysis ...