The nucleotide bases pair up to make rungs of the ladder, while the sugar and phosphate molecules make the sides. The bases have different shapes and pair up together in specific combinations: A pairs with T, and C pairs with G to make base pairs. Put three billion of these base pairs together in the right order, and you have a complete set of human DNA—the human genome. This amounts to a DNA molecule about a metre long. You have two copies of the genome, one from your father and one from your mother.
The metre-long sequence is cut up into 23 bits, which are then tightly packaged as chromosomes in each of our microscopic cells. No two people have exactly the same DNA sequence. Identical twins are a bit of an exception to this rule, because they came from a single egg that split into two, forming two copies of the same DNA.
Three billion is a lot of base pairs. Rather, within this long string, there are distinct sections of DNA that affect a particular characteristic or condition.
These stretches of DNA are known as genes. Their base pair sequence provides the instructions for bringing together the right amino acids in the right order to build a protein.
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This was intentionally not known to protect the volunteers who provided DNA samples for sequencing. The sequence is derived from the DNA of several volunteers. To ensure that the identities of the volunteers cannot be revealed, a careful process was developed to recruit the volunteers and to collect and maintain the blood samples that were the source of the DNA.
The volunteers responded to local public advertisements near the laboratories where the DNA "libraries" were prepared. Candidates were recruited from a diverse population. The volunteers provided blood samples after being extensively counseled and then giving their informed consent. About 5 to 10 times as many volunteers donated blood as were eventually used, so that not even the volunteers would know whether their sample was used.
All labels were removed before the actual samples were chosen. The main goals of the Human Genome Project were first articulated in by a special committee of the U. National Academy of Sciences, and later adopted through a detailed series of five-year plans jointly written by the National Institutes of Health and the Department of Energy.
The principal goals laid out by the National Academy of Sciences were achieved, including the essential completion of a high-quality version of the human sequence. Other goals included the creation of physical and genetic maps of the human genome, which were accomplished in the mids, as well as the mapping and sequencing of a set of five model organisms, including the mouse.
All of these goals were achieved within the time frame and budget first estimated by the NAS committee. Notably, quite a number of additional goals not considered possible in have been added along the way and successfully achieved. Examples include advanced drafts of the sequences of the mouse and rat genomes, as well as a catalog of variable bases in the human genome.
On June 26, , the International Human Genome Sequencing Consortium announced the production of a rough draft of the human genome sequence. In April, , the International Human Genome Sequencing Consortium is announcing an essentially finished version of the human genome sequence.
This version, which is available to the public, provides nearly all the information needed to do research using the whole genome. The difference between the draft and finished versions is defined by coverage, the number of gaps and the error rate.
The draft sequence covered 90 percent of the genome at an error rate of one in 1, base pairs, but there were more than , gaps and only 28 percent of the genome had reached the finished standard. In the April version, there are less than gaps and 99 percent of the genome is finished with an accuracy rate of less than one error every 10, base pairs.
The differences between the two versions are significant for scientists using the sequence to conduct research. Every part of the genome sequenced by the Human Genome Project was made public immediately, and new information about the genome is posted almost every day in freely accessible databases or published in scientific journals which may or may not be freely available to the public. The Supreme Court ruled in that naturally occurring human genes are not an invention and therefore cannot be patented.
However, private companies can apply for patents on edited or synthetic genes, which have been altered significantly from their natural versions to count as a new, patentable, product. The Human Genome Project could not have been completed s quickly and as effectively without the strong participation of international institutions.
However, almost all of the actual sequencing of the genome was conducted at numerous universities and research centers throughout the United States, the United Kingdom, France, Germany, Japan and China. In , Congress established funding for the Human Genome Project and set a target completion date of
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