Genome Modeling System: A Knowledge Management Platform for GenomicsThe Human Genome Project HGP was an international scientific research project with the goal of determining the sequence of nucleotide base pairs that make up human DNA , and of identifying and mapping all of the genes of the human genome from both a physical and a functional standpoint. A parallel project was conducted outside government by the Celera Corporation , or Celera Genomics, which was formally launched in Most of the government-sponsored sequencing was performed in twenty universities and research centers in the United States, the United Kingdom, Japan, France, Germany 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.
Alleles and Genes
What was conceived as an audacious plan in the s turned into an official multi-centre, international program in and was brought to a conclusion in More than a decade later genomics is still big in business and big business : the Obama administration announced in January that they intend to sequence one million human genomes see Precision Medicine Initiative in the Other Internet Resources section below; see also Reardon
Genomics and Postgenomics
In this work, we present the Genome Modeling System GMS , an analysis information management system capable of executing automated genome analysis pipelines at a massive scale. The GMS framework provides detailed tracking of samples and data coupled with reliable and repeatable analysis pipelines. The GMS also serves as a platform for bioinformatics development, allowing a large team to collaborate on data analysis, or an individual researcher to leverage the work of others effectively within its data management system. Rather than separating ad-hoc analysis from rigorous, reproducible pipelines, the GMS promotes systematic integration between the two. As a demonstration of the GMS, we performed an integrated analysis of whole genome, exome and transcriptome sequencing data from a breast cancer cell line HCC and matched lymphoblastoid line HCCBL.
Daniel L. Hartl, Elizabeth W. In current biomedical research, where many new mind-boggling technologies are constantly making the news, the concept of going back to the basics is rarely at the forefront. But when one does just that, as I did with Genetics: Analysis of Genes and Genomes , the sixth edition of a textbook intended for college students, one will experience a profound impact from revisiting the basic principles, the key historical discoveries, and the elegant discovery processes presented in the book. The authors, Daniel L. Hartl and Elizabeth W.
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