In: Biology
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Topic : what is Human sequencing project ? and does it worth doing ?
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The Human Genome Project (HGP) or human sequencing project was an international scientific research project with the goal of determining the sequence of nucleotide base pairs that make up humanDNA, and of identifying and mapping all of the genes of the human genome from both a physical and a functional standpoint.
The project was formally launched in 1990 and was declared complete in 2003. Funding came from the US government through the National Institutes of Health (NIH) as well as numerous other groups from around the world
Most of the government-sponsored sequencing was performed in twenty universities and research centers were in the United States, the United Kingdom, Japan, France, Germany, Spain and China.
The Human Genome Project originally aimed to map the nucleotides contained in a human haploid reference genome (more than three billion). The "genome" of any given individual is unique; mapping the "human genome" involved sequencing a small number of individuals and then assembling these together to get a complete sequence for each chromosome. Therefore, the finished human genome is a mosaic, not representing any one individual.
Applications and benefits - Yes it is worth doing as
The Human Genome Project, through its sequencing of the DNA, can help us understand diseases including: genotyping of specific viruses to direct appropriate treatment; identification of mutations linked to different forms of cancer; the design of medication and more accurate prediction of their effects; advancement inforensic applied sciences; biofuels and other energy applications; agriculture, animalhusbandry, bioprocessing;risk assessment;bioarcheology, anthropology and evolution. Another proposed benefit is the commercial development of genomics research related to DNA based products, a multibillion-dollar industry.
The U.S. National Center for Biotechnology Information (and sister organizations in Europe and Japan) house the gene sequence in a database known as GenBank, along with sequences of known and hypothetical genes and proteins. Other organizations, such as the UCSC Genome Browser at the University of California, Santa Cruz, Ensembl present additional data and annotation and powerful tools for visualizing and searching it.Computer programs have been developed to analyze the data, because the data itself is difficult to interpret without such programs. Generally , advances in genome sequencing technology have followed Moore’s Law, a concept from computer science which states that integrated circuits can increase in complexity at an exponential rate.
Technique-
The process of identifying the boundaries between genes and other features in a raw DNA sequence is called genome annotation and is in the domain of bioinformatics. While expert biologists make the best annotators, their work proceeds slowly, and computer programs are increasingly used to meet the high-throughput demands of genome sequencing projects. Beginning in 2008, a new technology known as RNA-seq was introduced that allowed scientists to directly sequence the messenger RNA in cells. Today,annotation of the human genome and other genomes relies primarily on deep sequencing of the transcripts in every human tissue using RNA-seq. These experiments have revealed that over 90% of genes contain at least one and usually several alternative splice variants, in which the exons are combined in different ways to produce 2 or more gene products from the same locus
The genome published by the HGP does not represent the sequence of every individual's genome. It is the combined mosaic of a small number of anonymous donors, all of European origin. The HGP genome is a scaffold for future work in identifying differences among individuals
Findings:
Key findings of the draft (2001) and complete (2004) genome sequences include: