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The Complete Genome of a Single Individual by Massively Parallel DNA Sequencing

GSE10668 Homo sapiens Genome variation profiling by genome tiling array; Genome variation profiling by SNP array; SNP genotyping by SNP array 6 samples Submitted 2008/02/29 Platform GPL4544Platform GPL3720Platform GPL3718
Summary
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
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Also filed as BioProject PRJNA107641. Searching any of these in the dataset finder brings you back here.

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