Who is the human genome project available to

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. The Human Genome Project. What is the Human Genome Project? The Human Genome Project HGP was the international, collaborative research program whose goal was the complete mapping and understanding of all the genes of human beings. All our genes together are known as our "genome. 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. Congress funded both the NIH and the DOE to embark on further exploration of this concept, and the two government agencies formalized an agreement by signing a Memorandum of Understanding to "coordinate research and technical activities related to the human genome.

HGP researchers deciphered the human genome in three major ways: determining the order, or "sequence," of all the bases in our genome's DNA; making maps that show the locations of genes for major sections of all our chromosomes; and producing what are called linkage maps, through which inherited traits such as those for genetic disease can be tracked over generations.

The HGP has revealed that there are probably about 20, human genes. This ultimate product of the HGP has given the world a resource of detailed information about the structure, organization and function of the complete set of human genes.

This information can be thought of as the basic set of inheritable "instructions" for the development and function of a human being. When the yeast and worm efforts proved successful, the sequencing of the human genome proceeded with full force. When possible, the DNA fragments within the library vectors were mapped to chromosomal regions by screening for sequence-tagged sites STSs , which are DNA fragments, usually less than base pairs in length, of known sequence and chromosomal location that can be amplified using polymerase chain reaction PCR.

Library clones were also digested with the restriction enzyme HindIII, and the sizes of the resulting DNA fragments were determined using agarose gel electrophoresis. Each library clone exhibited a DNA fragment "fingerprint," which could be compared to that of all other library clones in order to identify overlapping clones. Fluorescence in situ hybridization FISH was also used to map library clones to specific chromosomal regions.

The inserts were sequenced using primers matching the vector sequence flanking the genomic DNA insert, and overlapping shotgun clones were used to generate a DNA sequence spanning the entire BAC clone.

A summary of this step is shown in Figure 3. The members of the IHGSC agreed that each center would obtain an average of fourfold sequence coverage, with no clone having less than threefold coverage. The term "shotgun" comes from the fact that the original BAC clone was randomly fragmented and sequenced, and the raw DNA sequence data was then subjected to computational analyses to generate an ordered set of DNA sequences that spanned the BAC clone.

Led by Dr. Craig Venter, Celera proclaimed that it would sequence the entire human genome within three years. As outlined in Figure 4, Celera used two independent data sets together with two distinct computational approaches to determine the sequence of the human genome Venter et al. The first data set was generated by Celera and consisted of The second data set was obtained from the publicly funded Human Genome Project and was derived from the BAC contigs called bactigs ; here, Celera "shredded" the Human Genome Project DNA sequence into base-pair sequence reads representing a total of The company then used a whole-genome assembly method and a regional chromosome assembly method to sequence the human genome.

The sequence of the human genome. Science , — All rights reserved. In the whole-genome assembly method also called the whole-genome random shotgun method , Celera generated a massive shotgun library derived from its own DNA sequence data combined with the "shredded" Human Genome Project DNA sequence data, which together corresponded to a total of Celera used computational methods and sophisticated algorithms to identify overlapping DNA sequences and to reconstruct the human genome by generating a set of scaffolds Figure 5.

In contrast, with the regional chromosome assembly approach also called the compartmentalized shotgun assembly method , Celera organized its own data and the Human Genome Project sequence data into the largest possible chromosomal segments, followed by shotgun assembly of the sequence data within each segment Venter et al.

The first step of the regional assembly approach involved separating Celera reads that matched Human Genome Project reads from those that were distinct from the public sequence data. Of the These reads were assembled into Celera-specific or Human Genome Project-specific scaffolds, which were then combined and analyzed using whole-gene assembly algorithms.

The resulting bactig data were again "shredded" to permit unbiased assembly of the combined sequence data. Celera's whole-genome and regional chromosome assembly methods were independent of each other, permitting direct comparison of the data.

Celera found that the regional chromosome assembly method was slightly more consistent than the whole-genome assembly method. In February , drafts of the human genome sequence were published simultaneously by both groups in two separate articles IHGSC, ; Venter et al. Due to technical advances in DNA sequencing methods and a productive level of synergy between the two groups, they tied at the finish line , and both projects were completed ahead of schedule. As previously mentioned, the IHGSC and Celera used different approaches to determine the sequence of the human genome.

The mixture was first heated to denature the template DNA strand; this was followed by a cooling step to allow the DNA primer to anneal. Following primer annealing, the polymerase synthesized a complementary DNA strand. The template would grow in length until a dideoxynucleotide base ddNTP was incorporated; the conditions were such that this occurred at random along the length of the newly synthesized DNA strands. In order to determine the sequence of the newly synthesized, color-coded DNA strands, researchers needed a way to separate them based on their size, which differed by only one DNA nucleotide.

To accomplish this, they electrophoresed the DNA through a gel matrix that permitted single-base differences in size to be easily distinguished. Small fragments run more quickly through the gel, and larger fragments run more slowly Figure 6c.

By putting the entire mixture into a single well of the gel, a laser can be used to scan the DNA bands as they move through the gel and determine their color; this data can be used to generate a sequence trace also called an electropherogram , showing the color and signal intensity of each DNA band that passes through the gel Figure 6d.

Unfortunately, the initial hope of accelerating the discovery of new treatments for disease was not necessarily accomplished by the Human Genome Project. With the sequence of the human genome in hand, we have learned that it requires more than just knowledge of the order of the base pairs in our genome to cure human disease.

Current efforts are therefore focused on understanding the protein products that are encoded by our genes. When a gene is mutated, the corresponding protein is most often defective. The emerging field of proteomics aims to understand how protein function and expression are altered in human disease states.

Furthermore, investigators are also turning their attention to the expansive regions of our genome devoid of traditional protein-encoding genes. We have already started to reap the benefits of our knowledge of the human genome, and future data-mining efforts will most certainly uncover many more exciting and unexpected links to human disease.

International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature , — link to article. Finishing the euchromatic sequence of the human genome. Venter, J. Science , — link to article. Pufferfish and Ancestral Genomes.

Simple Viral and Bacterial Genomes. Complex Genomes: Shotgun Sequencing. DNA Sequencing Technologies. Genomic Data Resources: Challenges and Promises. Transcriptome: Connecting the Genome to Gene Function. Behavioral Genomics.

Comparative Methylation Hybridization.