Bioinformatics is an interdisciplinary science with afocus on data management andinterpretation for complex biologicalphenomena that are analyzed andvisualized using mathematical modelingand numerical methodologies withpredictive algorithms
BioinformaticsHas also been defined as –the branch of biology that is concerned with the acquisition, storage, display, and analysis of the information found in nucleic acid and protein sequence data. Computers and bioinformatics software are the tools of the trade
Genomics• “omics" are suffixes that are derived from genome• Botanist Hans Winkler merged the Greek words "genesis" and "soma" to describe a body of genes in 1920.• The term genome was born and genomics arose as the study of the genome.
Biomedical Informatics is the study and process ofefficiently gathering, storing,managing, retrieving, analyzing,communicating, sharing, andapplying biomedical information toimprove the detection, prevention,and treatment of disease
Computational BiologyThe actual process of analyzing and interpreting data
Cancer Genome Atlas (TCGA) Project• 100 million pilot will map the genomic changes in brain, lung and ovarian cancers to assess the feasibility of a full-scale effort to systematically explore the entire spectrum of genomic changes involved in every major type of human cancer• the goal of this project is to develop a resource for the development of new strategies for preventing, diagnosing and treating the disease
International HapMap Project’s (2006)• An international partnership of scientists cataloging some of the common variations in DNA and investigating inherited alleles.• Goal was to develop a haplotype map of the human genome, the HapMap, which will describe the common patterns of human DNA sequence variation.• Expected to be a key resource for researchers to use to find genes affecting health, disease, and responses to drugs and environmental factors.
Human Genome Project (HGP)• lasted 13 years -completed in 2003• this program was designed to – identify all the approximately 20,000-25,000 genes in human DNA, – determine the sequences of the 3 billion chemical base pairs that make up human DNA, – store this information in databases, – improve tools for data analysis, – transfer related technologies to the private sector, and – address the ethical, legal, and social issues (ELSI) that may arise from the project
SummaryBiomedical informatics provides knowledgeabout the effects of DNA disparities amongindividuals. Being able to study human genomesand biological processing at the molecular levelwill revolutionize how we diagnose and providecare. It is helping us to prevent disease. If we canbetter understand organisms’ biologicalprocesses and genetic coding, we can betterprevent or treat their attack on our patients.Clinical care as we know it will change; it willbecome genomics based.