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February, 2013

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Human Genome Industry and its Economic Impacts

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*Introduction

Human genome

Human Genome Project

Goals of Human Genome Project

Economic impact of Human Genome Project

Bioinformatics

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*Human Genome

The human genome is the complete set of human geneticinformation

*stored as DNA sequences within the chromosome pairsof the cell nucleus.

*The human genome is organized into chromosomes(very large linear DNA molecules contained within thecell nucleus).

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*Human Genome Project

*The human genome project (HGP) was a 13-yearproject coordinated by the U.S. Department of energyand the national institutes of health.

*The project began in October 1990 and was completedin 2003.

* It is an international research effort to sequence andmap all of the genes. To give us the ability, for the firsttime, to read nature's complete genetic blueprint forbuilding a human being.

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*Human Genome Project

Organizations involved in HGP

US National Institutes of Health

Celera Corporation

DOE Human Genome Program

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*Human Genome Project

Goals of HGP:

*Identify all the approximate 20,000-25,000 genes inhuman DNA.

*Determine the sequences of the 3 billion chemical basepairs of human DNA.

*Create a genetic and physical map of humanchromosomes.

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*Human Genome Project

Goals of HGP:

*Analyze genetic variations among humans.

*Store this information in databases.

*Improve tools for data analysis

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*Advantages of HGP

Potential applications of genome researchinclude

*Molecular medicine

*DNA forensics (identification

*Agriculture, livestock breeding, andbioprocessing

*Energy sources and environmental application

*Risk Assessment etc

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*The potential for commercial development ofgenomics research presents U.S. industry with

a wealth of opportunities, and sales of DNA-based products and technologies in thebiotechnology industry are projected to exceed$45 billion by 2009 (Consulting ResourcesCorporation Newsletter, Spring 1999)

*$3.8 billion investment in the Human GenomeProject (HGP) has generated $796 billion ineconomic impact.

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* Spending by the national institutes of healthdirectly and indirectly supported nearly

488,000 jobs and produced $68 billion in neweconomic activity in 2010.

*Every dollar invested in the US elements of theinternational HGP has generated $141.

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*The economic and functional impactsgenerated by the project are already "large

and widespread.

*The impacts of the project are justbeginning. The report noted that "large scalebenefits in human medicine and many other

diverse applications are still in their earlystages," stating that the best is truly yet tocome.

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*The project is "arguably the single mostinfluential investment to have been made in

modern science and a foundation for progressin the biological sciences moving forward."

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*BioInformatics

*Bioinformatics is an interdisciplinary fieldthat develops and improves upon methods

for storing, retrieving, organizing andanalyzing biological data.

*A major activity in bioinformatics is todevelop software tools to generate useful

biological knowledge.

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*Databases

What is a database?

A collection of related data elements

tables

columns (fields)

rows (records)

Records retrieved using a querylanguage

Database technology is well established

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* Biological Databases

Over 1000 biological databases

Vary in size, quality, coverage, level of interest

Many of the major ones covered in the annualDatabase Issue ofNucleic Acids Research

What makes a good database?

comprehensiveness

accuracy

is up-to-date

good interface

batch search/download

API (web services, DAS, etc.)

http://nar.oxfordjournals.org/http://nar.oxfordjournals.org/

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GenBank is the NIH genetic

sequence database, an annotated

collection of all publicly available

DNA sequences. There are

approximately 65,369,091,950

bases in 61,132,599 sequencerecords in the traditional GenBank

divisions and 80,369,977,826

bases in 17,960,667 sequence

records in the WGS division as of

August 2006.

www.ncbi.nlm.nih.gov/GenBank

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Important Bioinformatics

Databases*GenBank www.ncbi.nlm.nih.govnucleotide sequences

*Ensembl www.ensembl.orghuman/mouse genome (and others)

*PubMed www.ncbi.nlm.nih.govliterature references

*NR www.ncbi.nlm.nih.govprotein sequences

*SWISS-PROT www.expasy.ch

protein sequences

http://www.ncbi.nlm.nih.gov/http://www.ensembl.org/http://www.ncbi.nlm.nih.gov/http://www.ncbi.nlm.nih.gov/http://www.expasy.ch/http://www.expasy.ch/http://www.ncbi.nlm.nih.gov/http://www.ncbi.nlm.nih.gov/http://www.ensembl.org/http://www.ncbi.nlm.nih.gov/

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NCBI (National Center for

Biotechnology Information)

over 30 databases

including GenBank, PubMed,

OMIM, and GEO

Access all NCBI resources

via Entrez

(www.ncbi.nlm.nih.gov/Entre

z/)

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