Project description:The association of genetic variation with disease and drug response, together with improvements in nucleic acids technologies, has given great optimism for the impact of 'genomic medicine'. However, the formidable size of the diploid human genome has prevented the routine application of sequencing methods to deciphering complete individual human genomes, and has so far limited the realization of the full potential of genomics for science and human health. Working towards the goal of harnessing the power of genomics, we sequenced the diploid genome of a single individual, Dr. James D. Watson, using a massively-parallel method of sequencing in picoliter size reaction vessels. Here we report the results of genotyping the subject's DNA using an Affymetrix 500k GeneChip as well as copy number variations as reported by Agilent 244k comparative genomic hybridization arrays. Keywords: Genotyping, copy number variation (CNV), aCGH
Project description:Osteosarcomas (OS) have highly chaotic genomes, yet their cancer drivers are poorly defined. Given that cancer genes are conserved among mammals, cross-species genomics of naturally arising cancers opens a powerful approach to identifying oncogenic drivers to broaden the therapeutic opportunities for aggressive cancers. Here, we utilized a dog-to-human cross-species genomics combined with gain- and loss-of-function analysis to uncover novel OS driver genes.
