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Human Genome Project: Complementary Dna
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To best meet the needs of the scientific community, the finished human DNA sequence must be a faithful representation of the genome, with high base-pair accuracy and long-range contiguity. Specific quality standards that balance cost and utility have already been established. One of the most important uses for the human sequence will be comparison with other human and nonhuman sequences. The sequence differences identified in such comparisons should, in nearly all cases, reflect real biological differences rather than errors or incomplete sequence. Consequently, the current standard for accuracy--an error rate of no more than 1base in 10,000--remains appropriate. Although production of contiguous sequence without gaps is the goal, any irreducible gaps must be annotated as to size and position.
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The process of building the scaffold for the human genome sequencing effort has almost been completed. This process is called physical mapping. It involves making large scale maps of landmarks that lie along the landscape of the chromosomal DNA. The landmarks that have been used are short pieces of DNA that have already been sequenced. These sequences are then used as tags for their chromosomal environ, a little like one would use the name of a town on a map.
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DNA in the human genome is arranged into 24 distinct chromosomes--physically separate molecules that range in length from about 50 million to 250 million base pairs. A few types of major chromosomal abnormalities, including missing or extra copies or gross breaks and rejoinings (translocations), can be detected by microscopic examination. Most changes in DNA... are more subtle and require a closer analysis of the DNA molecule to find perhaps single-base differences.
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The prevailing view is that the bulk of useful information about the human genome can be gained from the regions of DNA that encode proteins. Analysis of these nucleotide sequences allows elucidation of the corresponding amino acid sequences. Although this seems simple, a significant problem is that gene density in the human genome is exceptionally low, and only about 3% of the genome encodes proteins (Slater, 1998).
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The collaborative study focused on 44 targets, which together cover about 1 percent of the human genome sequence, or about 30 million DNA base pairs. The targets were strategically selected to provide a representative cross section of the entire human genome. All told, the ENCODE consortium generated more than 200 datasets and analyzed more than 600 million data points.
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The human genome consists of roughly 3 billion base pairs, distributed among 24 distinct chromosomes. The genome is the entirety of all genetic information of an organism. Genetic information is encoded as a sequence of different base pairs in DNA strands.
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