Overview

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and sustainability of crops, assisting criminal investigations, identifying genes associated with diseases, or targeting optimal treatment for cancer patients.

Over the past 30 years, significant technological developments in DNA sequencing took place, in particular, thanks to the international Human Genome Project effort. Technology now exists to sequence 60 billion DNA bases, which is 20 times the size of a human genome. With this abundance of information and big data, computer scientists and bioinformaticians work hand in hand with biologists in order to collect, store, and analyze the DNA sequencing outputs, while allowing the data to be accessed securely.

The success of genomics has opened the way for other large-scale methods to investigate biological systems in their entirety. Genomic studies can now be completed by other "omics" studies in order to gather data on living sets at all levels: species, populations, individuals, cells, proteins, RNA, DNA. Transcriptomics is the study of how the overall expression of genes varies under different experimental or pathological conditions. Proteomics is the study of all the proteins constituting an organism or system. Metabolomics is the study of all the metabolites (sugar, fats, other molecules) contained in a given biological system and their interactions. Undissociable from bioinformatics, the "omics" allow a global view of complex living sets in their environment, and as such, pave the way for personalized medicine.

Procedure

The study of individual genes has produced extraordinary insights into nearly all aspects of biology, ranging from disease and heredity to agriculture and evolution. However, many questions about how genes work and evolve can be answered only by studying all of an organism’s DNA—its genome—together as a whole.

The study of complete genomes is known as genomics. It involves the sequencing of entire genomes to examine their organization, function, regulation, and evolution. Genomics sits at the intersection of genetics, molecular biology, and computational sciences.

After the structure of DNA was identified in 1953, scientists began developing techniques to sequence individual genes. An important breakthrough in DNA sequencing came in 1977 when Frederick Sanger developed a method allowing for whole genomes to be sequenced. This led to the sequencing of the genomes for baker’s yeast and the fruit fly using the shotgun sequencing approach.  

The Human Genome Project that started in 1990 was a 13-year, $2.7 billion international effort that successfully sequenced the first human genome in 2003. The success of this project led to innovations in sequencing technologies and human genomes can now be sequenced in a day for under a thousand dollars. 

The large amounts of data generated lead to the emergence of the field of bioinformatics that combines mathematical and computer science techniques to organize, analyze, and compare the vast amounts of genomic data. 

Genomics is now a central component of personalized medicine, for example in treatment of cancer, and it continues to play a key role in fields such as anthropology, evolution, forensics, and agriculture, among many others.