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The human genome: sequenced!
Obtaining the human genome
sequence was a technological
breakthrough more than a scientific
 Nonetheless, it is a tremendous
advance and provides short cuts to
gene identification
Genomes are being revealed
by sequencing
The DNA sequence of the entire haploid set of
chromosomes constitutes the genome of an
organism (and, more broadly, species). The
sequence of many genomes has been (many
bacteria, yeast, C. elegans, Drosophila
melanogaster, human) or is being (mouse, maize)
WHY do we want to determine genome sequence?
(minimum genome size necessary for life,
evolutionary insights, unravel mysteries of
development and disease)
HOW do we determine genome sequence? (bottomup, top-down and shotgun methods, contigs,
computational methods for sequence assembly and
gene recognition)
Top-down: Clone-by-clone,
anchored to map
Bottom-up: Shotgun with
computational assembly
Human Genomics: New Knowledge
Human genomics began as effort to map, identify and
clone genes whose mutations caused genetic
disease in order to understand the basis of disease
and be able to diagnose and treat it more effectively.
Even with sequence in hand, there are major
problems in gene identification and cloning
– need knowledge of map position therefore linkage analysis
continues to be of major importance
– ultimate goal of reconciling the genetic (linkage) and physical
(sequence) maps of chromosomes
Another major problem in gene cloning is how to
know you have the right gene
– importance of mutational analysis and functional tests such as
transgenes or gene knockouts in model organisms
Genomics: New Applications and
New Problems
Human genome sequence information makes
possible new strategies for:
prenatal testing for genetic disease
genetic screening (“DNA chips)
gene therapy
Pharmacogenetics is an emerging field that
unites pharmacology and genetics and aims
to get the right drug for the symptom and the
Genomics: Summary
The study of the human genome
allows us to understand how it is
put together and gives us
resources for gene identification
 Knowledge of genomes is enabling
new technologies and diagnostics.