Sequencing and analysis of the human genome

Once thought to be impossible or a waste of resources, the initial high-volume stages of sequencing the human genome have been completed. In 2001, the simultaneous publication in the prestigious scientific journals Nature and Science of the draft of the human sequence was generated, respectively, by the long-established and publicly-funded International Human Genome Sequencing Consortium (IHGSC).

The sequence of the human genome is of interest in several respects. It is the largest genome to be extensively sequenced so far, being 25 times as large as any previously sequenced genome and eight times as large as the sum of all such genomes. It is the first vertebrate genome to be extensively sequenced. And, uniquely, it is the genome of our own species, humans.

In that original publication, there were about 30,000 to 40,000 protein-coding genes in the human genome—only about twice as many as in worms or flies. There were also identified more than 1.4 million single nucleotide polymorphisms (SNPs) in the human genome. This collection should allow the initiation of genome-wide linkage disequilibrium mapping of the genes in the human population.

Most of the genes that have been identified do not directly cause complex diseases, but rather enhance our susceptibility and predisposition.  A wide range of biochemical and molecular pathways are involved in this predisposition. The genomic revolution of the 21st century facilitated the study of the genes in the connection of nutrition and all that knowledge drove the development, the rise, and the advances of nutrigenetics and nutrigenomics (nutritional genomics) as a scientific discipline.