Replicative mechanisms in PTLS syndrome

Human Molecular Genetics, 2013, Vol. 22, No. 4 749–756 Copy number variations (CNVs) in the human genome contribute significantly to disease. De novo CNV mutations arise via genomic rearrangements, which can occur in ‘trans’, i.e. via interchromosomal events, or in ‘cis’, i.e. via...

AccuCopy for CNV Genotyping

Journal of Human Genetics (2012) 57, 545–551 Local genomic architecture, such as segmental duplications (SDs), can induce copy number variations (CNVs) hotspots in the human genome, many of which manifest as genomic disorders. Significant technological advances have been achieved for genome-wide CNV...