Whitepapers
Get detailed information about complete human genome sequencing.
Technology White Paper
Overview of Complete Genomics approach, sequencing technology, data analysis and software.
>> read moreTo Get the Whole Picture, Sequence the Whole Genome
Next-generation DNA sequencing has recently empowered scientists to identify genetic variations associated with human disease at higher resolution and greater sensitivity than previously possible. Two approaches are commonly employed -- exome sequencing and whole genome sequencing. Exome sequencing targets protein-coding regions comprising approximately 1% of the human genome, while whole genome sequencing uses an unbiased approach to investigate the majority of the human genome, including a comprehensive survey of coding and non-coding regions.
>> read moreComplete Genome Sequencing of a Nuclear Family Reveals Candidate Genes for Rare Genetic Diseases
Ever since the human genome was first sequenced, scientists have been inspired by possibilities of using genomic information for medical research. This potential, however, has not been fully realized due to the time and expense involved in performing even just a handful of complete human genome studies. These studies can take years and require...
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