Summarizing Whole-Genome Sequencing

Summary

Whole-genome sequencing is the latest available resource to treat genetic diseases. Some doctors are using whole-genome sequencing to save lives. Genomics has many industrial applications including biofuel development, agriculture, pharmaceuticals, and pollution control. The basic principle of all modern-day sequencing strategies involves the chain termination method of sequencing.

Although the human genome sequences provide key insights to medical professionals, researchers use whole-genome sequences of model organisms to better understand the genome of the species. Automation and the decreased cost of whole-genome sequencing may lead to personalized medicine in the future.

Glossary

chain termination method

method of DNA sequencing using labeled dideoxynucleotides to terminate DNA replication; it is also called the dideoxy method or the Sanger method

contig

larger sequence of DNA assembled from overlapping shorter sequences

deoxynucleotide

individual monomer (single unit) of DNA

dideoxynucleotide

individual monomer of DNA that is missing a hydroxyl group (–OH)

DNA microarray

method used to detect gene expression by analyzing an array of DNA fragments that are fixed to a glass slide or a silicon chip to identify active genes and identify sequences

genome annotation

process of attaching biological information to gene sequences

model organism

species that is studied and used as a model to understand the biological processes in other species represented by the model organism

next-generation sequencing

group of automated techniques used for rapid DNA sequencing

shotgun sequencing

method used to sequence multiple DNA fragments to generate the sequence of a large piece of DNA

whole-genome sequencing

process that determines the DNA sequence of an entire genome