2013/01/01 by Leroy Hood, Lee Rowen · 392 citations
Biochemistry, Genetics and Molecular Biology · #Genetics, Bioinformatics, and Biomedical Research #International HapMap Project #Translational bioinformatics #Data science #Human proteome project #Genome #Human genome #Systems biology #Genomics #Genome project #Big data #Computational biology #Biology #Computer science #Proteomics #Genetics #Data mining
paper · pdf · doi:10.1186/gm483
published in Genome Medicine 5(9), 79 (BioMed Central)
openalex publication_date 2013/01/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01
The Human Genome Project has transformed biology through its integrated big science approach to deciphering a reference human genome sequence along with the complete sequences of key model organisms. The project exemplifies the power, necessity and success of large, integrated, cross-disciplinary efforts - so-called 'big science' - directed towards complex major objectives. In this article, we discuss the ways in which this ambitious endeavor led to the development of novel technologies and analytical tools, and how it brought the expertise of engineers, computer scientists and mathematicians together with biologists. It established an open approach to data sharing and open-source software, thereby making the data resulting from the project accessible to all. The genome sequences of microbes, plants and animals have revolutionized many fields of science, including microbiology, virology, infectious disease and plant biology. Moreover, deeper knowledge of human sequence variation has begun to alter the practice of medicine. The Human Genome Project has inspired subsequent large-scale data acquisition initiatives such as the International HapMap Project, 1000 Genomes, and The Cancer Genome Atlas, as well as the recently announced Human Brain Project and the emerging Human Proteome Project.