The Human Genome Project

The History of the Human Genome Project

Many different pieces came together to make the Human Genome Project a success. DNA sequencing techniques and bioinformatics strategies were improved. Ultimately the sequence of the human genome was "solved," but that was only the first step.

1.1

DNA Sequencing Technologies

The Human Genome project set out to sequence all of the 3 billion nucleotides in the human genome. Exactly how was this daunting task done with such incredible speed and accuracy?

1.2

DNA Sequencing Technologies Key to the Human Genome Project

Thanks to the Human Genome Project, researchers have sequenced all 3.2 billion base pairs in the human genome. How did researchers complete this chromosome map years ahead of schedule?

1.3

Complex Genomes: Shotgun Sequencing

Scientists now have the ability to sequence complex genomes from multicellular organisms. Does the genome size correlate with the complexity of the organism? The answer is surprising.

1.4

Sequencing Human Genome: the Contributions of Francis Collins and Craig Venter

How did it become possible to sequence the 3 billion base pairs in the human genome? More than a quarter of a century’s worth of work from hundreds of scientists made such projects possible.

Unit 2

Variation in the Human Genome

After publishing the sequence of the human genome, scientists began investigating where the sequence varied between different individuals. The idea behind this search for variation is the idea that in that variation lies the secrets about human health.

2.1

Using SNP Data to Examine Human Phenotypic Differences

Genetic variation among human races can be observed in almost any trait, from the physical and biochemical, to disease resistance. What role do single nucleotide polymorphisms play in this?

2.2

Pharmacogenomics and Personalized Medicine

Can doctors predict who should take certain medications and who will suffer side effects? With personalized medicine, physicians may be able to use genetic profiles to make treatment choices.

2.3

Genetic Variation and Disease: GWAS

Genome-wide association studies (GWAS) help scientists understand the inheritance patterns of disorders on a global scale. But can we make predictions from these studies?

2.4

The International HapMap Project

The goal of the International HapMap Project is to determine the common patterns of DNA sequence variation in the human genome and to make this information freely available in the public domain. An international consortium is developing a map of these patterns across the genome by determining the genotypes of one million or more sequence variants, their frequencies and the degree of association between them, in DNA samples from populations with ancestry from parts of Africa, Asia and Europe. The HapMap will allow the discovery of sequence variants that affect common disease, will facilitate development of diagnostic tools, and will enhance our ability to choose targets for therapeutic intervention.

Unit 3

Learning from Other Organisms

Homo sapiens is only one of many species whose genome has been sequenced. What have we learned from the genomes of other species?

3.1

Simple Viral and Bacterial Genomes

How do genomes from E. coli and yeast help researchers? They shed light on the basic principles of genomics. The Human Microbiome Project sequences microbial genomes for this purpose.

3.2

Genomes of Other Organisms: DNA Barcoding and Metagenomics

The Human Genome Project has been finished—why is it important to look at the genomes of other species? Species inventory projects can reveal insights into biodiversity and utility for humans.

3.3

Genome analysis of the platypus reveals unique signatures of evolution

We present a draft genome sequence of the platypus, Ornithorhynchus anatinus. This monotreme exhibits a fascinating combination of reptilian and mammalian characters. For example, platypuses have a coat of fur adapted to an aquatic lifestyle; platypus females lactate, yet lay eggs; and males are equipped with venom similar to that of reptiles. Analysis of the first monotreme genome aligned these features with genetic innovations. We find that reptile and platypus venom proteins have been co-opted independently from the same gene families; milk protein genes are conserved despite platypuses laying eggs; and immune gene family expansions are directly related to platypus biology. Expansions of protein, non-protein-coding RNA and microRNA families, as well as repeat elements, are identified. Sequencing of this genome now provides a valuable resource for deep mammalian comparative analyses, as well as for monotreme biology and conservation.

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