Complete 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 hundreds of thousands or even millions of dollars, including purchasing and managing the sequencing instrumentation and massive computing resources.

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