The central goal of human genetics is to understand the inherited basis of human variation in phenotypes, elucidating human physiology, evolution and disease. Rare mutations have been found underlying ...

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 ...

Using SNP-CGH to Profile for Amplifications, Duplications, and Deletions The beginnings of personalized medicine have been forged by recent advances in SNP genotyping technologies. It is now possible ...