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In 1990, scientists began working together on one of the largest biological research projectsever proposed. The project proposed to sequence the three billion nucleotides in the humangenome. The Human Genome Project took 13 years and was completed in April 2003, at acost of approximately three billion dollars. It was a major scientific achievement that foreverchanged the understanding of our own nature. The sequencing of the human genome was inmany ways a triumph for technology as much as it was for science. From the Human GenomeProject, powerful technologies have been developed (e.g., microarrays and next generationsequencing) and new branches of science have emerged (e.g., functional genomics andpharmacogenomics), paving new ways for advancing genomic research and medicalapplications of genomics in the 21st century. The investigations have provided new tests anddrug targets, as well as insights into the basis of human development and diagnosis/treatmentof cancer and several mysterious humans diseases. This genomic revolution is prompting anew era in medicine, which brings both challenges and opportunities. Parallel to thepromising advances over the last decade, the study of the human genome has also revealedhow complicated human biology is, and how much remains to be understood. The legacy ofthe understanding of our genome has just begun. To celebrate the 10th anniversary of theessential completion of the Human Genome Project, in April 2013 Genes launched thisSpecial Issue, which highlights the recent scientific breakthroughs in human genomics, with acollection of papers written by authors who are leading experts in the field.John Burn, James R. Lupski,Karen E. Nelson and Pabulo H. RampelottoGuest Editors
