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On June 26^th, 2000 an initial rough draft of the human genome was released by the Human Genome Project. The announcement was made in the White House by Dr. Francis Collins, with remarks from Bill Clinton, Tony Blair, and Craig Ventor.

The project was initially proposed in 1987 by Dr. Alvin Trivelpiece, and was estimated to take 15 years with the technology of the day.

The clock started on the project officially in 1990 with funding from both the Department of Energy (DOE) and the National Institutes of Health (NIH). The program was initially led by David Galas from the DOE and James Watson, head of the NIH Genome Program. James Watson is one of the original scientists who proposed the double helix structure of DNA back in 1953.

In 1993 Francis Collins replaced Watson as director of the NIH National Human Genome Research Institute.

The actual sequencing was completed by numerous universities in the United States, the United Kingdom, France, Germany, Japan, and China.

Human DNA sequencing finally began in 1996 in six universities across the United States. The project steamed ahead due to advances in the field of genomics, and large scale sequencing began in 1999. It was estimated to take 15 years, but the project was completed in 2003, 2 years earlier than expected.

Human chromosomes are between 50-300 million base pairs in size. In order make the task of sequencing them more manageable, the chromosomes were broken into fragments and then cloned into bacterial artificial chromosomes (BACs).

These BACs replicate the DNA in order to create a large enough quantity to allow for sequencing. Each fragment is sequenced about 10 times by a sequencing machine. These cloned fragments overlap, so that the whole sequence can be strung together to make up the final complete chromosome sequence.

Not only did they sequence 3 billion bases to 99.99% accuracy, they also mapped locations of genes in our chromosomes, and produced linkage maps showing how genetic traits can be tracked through generations. This wealth of data was updated daily and deposited in a database that was freely accessible for all to use.

We have approximately 20,000 genes, far fewer than first thought. The genome also has much more duplicated material than other genomes, with only 1.5% actually coding proteins. Some of the remaining 98.5% of the genome is transcribed into functional non-coding RNA strands that act as origins of replication, centromeres, and telomeres.

Two male and two female donors were randomly selected from a pool of 20 volunteers. The identity of the final 4 donors remains unknown even to them.

The project was estimated to cost $3 billion but it came in under budget at $2.7 billion.

As finished as it can be with the current technology. There is about 1% remaining that is not sequenced, and a new method will need to be created to sequence those missing pieces.What’s the big deal?
The genetic origins of 1,800 diseases have been discovered thanks to the Human Genome Project. Researchers can now find a gene suspected in a disorder in few days, instead of years. We can now perform genetic testing for more than 2,000 different conditions, assisting with diagnosis and risk assessment.

Similarly, the Cancer Genome Atlas wants to map all the genetic abnormalities found in various types of cancer. These efforts will pinpoint the specific areas where our genomes differ, and allow for targeted sequencing in the areas of high variation. The aim is to discover the genetic origins of human disease, leading to improved diagnosis, treatment, and prevention across the spectrum of disorders.

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