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Genome sequencing involves determining the nucleotide base sequence of the entire genome of an organism. For a prokaryotic organism with a single chromosome, the genome sequence is one continuous series of base pairs (bp). In the case of a diploid, sexually reproducing species with multiple autosomes and a pair of sex chromosomes (see Key Concept 12.4), the “sequenced genome” usually means the sequence of all the bases in one set of autosomes and in each of the two sex chromosomes.
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Genomes are sequenced in short fragments that are ordered through overlaps.
Functional genomics uses sequence information to identify the functions of various parts of the genome.
Comparative genomics compares sequences in genomes from different organisms.
With advances in the technology for DNA sequencing, there has been an explosion of genetic information that scientists can use in a variety of ways:
The genomes of different species can be compared to find out how they differ at the DNA level, and this information can be used to trace evolutionary relationships.
The sequences of individuals within a species can be compared to identify mutations that affect particular phenotypes.
Sequence information can be used to identify genes for particular traits, such as genes associated with diseases.