Mapping Genomes

techniques and strategies used to

obtain genome sequences

Preetam Bala, PhD

Image Source: National Human Genome Research Institute
Preetam Bala, PhD
 shotgun method

• The DNA molecule is broken into

small fragments, each of which is

sequenced.

• The master sequence is assembled by

searching for overlaps between the

sequences of individual fragments

* standard approach for sequencing small

prokaryotic genomes
Preetam Bala, PhD
shotgun method

o difficult with larger genomes

o more complex as the number of fragments increases
o can lead to errors when repetitive regions of a genome are analyzed

Preetam Bala, PhD

DNA molecule contains a DNA molecule contains two
tandemly repeated element copies of a repeat element

internal region of the tandem segment of DNA between the two

repeat will be omitted from the repeats being left out of the
master sequence master sequence
Preetam Bala, PhD
 a genome map must first

be generated

provides a guide for the sequencing experiments

by showing the positions of genes and other distinctive features
Once a genome map is available, the sequencing phase starts

Preetam Bala, PhD

 • uses the distinctive features
Genome is broken into on the genome map as
manageable segments, landmarks to aid assembly
each a few hundred of the master sequence
kilobases or a few from the huge numbers of
megabases in length, short sequences that are
which are short enough obtained.
to be sequenced • Reference to the map also
accurately by the ensures that regions
shotgun method containing repetitive DNA
are assembled correctly

Preetam Bala, PhD