ISSN: 2041-6792

Clinical Investigation

Human Genome Review Articles:

The genome is the complex of the genetic information of a cell and in eukaryote (and thus in humans) is stored in the nucleus and mitochondria. While mitochondrial DNA (mt DNA) sequence has been known since 1981, the draft sequence of the nuclear human genome was first published in February 2001. The last human reference genome GRCh38/hg38 was released in December 2013 by the Genome Reference Consortium (GRC) and is the most comprehensive and highest quality mosaic haploid representation compared to previous reference assembly versions, addressing issues about gaps, variants and component and tiling path errors; in addition, for the frst time, it contains sequence-based representations for centromeres and telomeres. Te incontrovertible fact that very long molecules of human DNA are often contained, following accurate and multiple rounds of folding, within the very limited space of the nucleus, has always attracted attention. In 1990 when sequencing of human genome was just at its beginning, geneticist Jérôme Lejeune afrmed that “we have gotten 2 meters of so to talk mag tape in which everything is coded” (Louisiana Legislature, House Committee on the Administration of Criminal Justice, June 7, 1990). Traditionally, it has actually roughly been estimated over the last decades that the total length of human diploid DNA is around 2 m. The base composition is typically specified quoting the share of guanine (G) and cytosine (C) of a DNA molecule, or GC content and was first estimated through the buoyant density centrifugation

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