Robert H. Waterston is an American biologist well known for his work on sequencing the genome of the nematode worm C. He is also recognised for his part in sequencing the human, mouse and chimpanzee genomes. He was one of the leaders of the Human Genome Project and his work has been key in developing tools to investigate disease. If you have any other comments or suggestions, please let us know at comment yourgenome. Can you spare minutes to tell us what you think of this website?
Open survey. In: Stories Methods and Technology. An international project To section off the workload equally, sequencing of the 23 pairs of chromosomes contained in the human genome was divided up between sequencing centres around the world. The Human Genome Project involved scientists from 20 institutions in six countries.
Human Genome Project. Related Content:. The problem is that the pieces from repeating regions all look nearly the same. The role of centromere sequences, like many other repeating regions, is not yet fully understood, but they are most classically known as the key to cell division.
When a cell divides in two, a protein spindle attaches to the centromeres, yanking the chromosomes apart to make sure that each cell gets the right number. When this goes wrong in eggs or sperm, babies can be born with chromosomal anomalies such as Down syndrome or Turner syndrome. When it goes wrong in other parts of the body, we can end up with blood cells, for example, that have too many or too few chromosomes. Examining the sequences in those regions might yield new clues to chromosomal anomalies.
The repeat-rich short arms of the chromosomes are similarly mysterious. They definitely play some role in the cellular machinery that translates genes into proteins, and knowing their sequences could shed more light on that function.
As impressive as the technical feat of sequencing a complete human genome is, scientists told me that one genome is only one snapshot. Seeing how these repeating regions change over time from person to person, species to species, will be far more interesting. What happens in development? What happens if you compare offspring to parents? The consortium proved that these repeating regions are sequenceable with the new long-read technologies. Now they can be applied to more genomes, allowing scientists to compare one with another.
Indeed, Miga says that the ultimate dream is to make every genome that scientists attempt to sequence complete from end to end, telomere to telomere. But first, the group has a more immediate goal in mind. To simplify the task, the group used cells from a particular type of tumor that develops from an abnormal fertilized egg and ends up with just 23 single chromosomes.
Read: Searching for the genes that are unique to humans. Garg has used PacBio HiF i to rapidly assemble human genomes—minus some tricky regions such as the centromeres—at a rate of a few per day.
The Human Genome Project was the international research effort to determine the DNA sequence of the entire human genome. In , an accurate and complete human genome sequence was finished two years ahead of schedule and at a cost less than the original estimated budget.
February 15, marks the year anniversary of publications reporting the draft human genome sequence. Video testimonials from prominent members of the genomics community commemorating and celebrating the 30th anniversary of the launch of the Human Genome Project. Explore frequently asked questions and answers about the Human Genome Project and its impact on the field of genomics.
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