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Whole-Exome/Genome Sequencing and Genomics

1 Dec 2013

Abstract excerpt

As medical genetics has progressed from a descriptive entity to one focused on the functional relationship between genes and clinical disorders, emphasis has been placed on genomics. Genomics, a subelement of genetics, is the study of the genome, the sum total of all the genes of an organism. The human genome, which is contained in the 23 pairs of nuclear chromosomes and in the mitochondrial DNA of each cell,...

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PMID: 24298129
DOI: 10.1542/peds.2013-1032e

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