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Human Genome Project: Mapping
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A similar approach is being used to sequence the human genome. A scaffold has been built on which to place these millions of smaller sequences and to act as the template for breaking the huge task into many smaller tasks. This scaffold is the physical map of the chromosomes.
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A working draft sequence of the entire human genome was generated in June 2000 that provided a scaffold for the finished version, becoming a road map to roughly 90 percent of genes on every chromosome. Since that time, genes associated with more than 30 disorders have been pinpointed, leading to a boom in spinoff sequencing programs on the human and other genomes in the public and private sectors.
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The goal of the HGP was to create a reference human genome sequence covering nearly the entire euchromatic genome and an error rate of ~1 in 10,000 bases. In fact, the final sequence covers 99% of the euchromatic genome with fewer than 350 gaps and has an error rate of ~1 in 100,000 bases. Work continues in various labs to close remaining gaps.
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[F]ar, the federal effort to map and sequence the human genome has cost $1.5 billion. Most of this money has gone towards laying the scientific foundation for the sequencing effort, which began in earnest only two years ago.
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In other news, the actual number of genes in the human genome is in debate. Estimates range from about 30,000 to over 100,000--but noone really knows. Dueling papers in the journal Nature Genetics, and a debate at a recent conference at the Cold Spring Harbor Laboratory, have increased the speculation. (There's even a sweepstakes running in which scientists bet on the number of genes that code for proteins, winner take all.)
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It is estimated that the sequence of the human genome should be completely mapped by approximately the year 2005. Already... the many new techniques developed so far during this project have provided doctors with improved genetic diagnostics and predictive testing.
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