In 1969, Roy J. Britten and Eric H. Davidson published Gene Regulation for Higher Cells: A Theory, in Science. A Theory proposes a minimal model of gene regulation, in which various types of genes interact to control the differentiation of cells through differential gene expression. Britten worked at the Carnegie Institute of Washington in Washington, D.C., while Davidson worked at the California Institute of Technology in Pasadena, California. Their paper was an early theoretical and mechanistic description of gene regulation in higher organisms.

Charles Robert Cantor helped sequence the human genome, and he developed methods to non-invasively determine the genes in human fetuses. Cantor worked in the US during the twentieth and twenty-first centuries. His early research focused on oligonucleotides, small molecules of DNA or RNA. That research enabled the development of a technique that Cantor subsequently used to describe nucleotide sequences of DNA, a process called sequencing, in humans. Cantor was the principal scientist for the Human Genome Project, for which scientists sequenced the entirety of the human genome in 2003. Afterwards, Cantor became the chief scientific officer for Sequenom Inc., a company that provided non-invasive prenatal genetic testing. Such tests use a pregnant woman's blood to identify genetic mutations in a fetus during the first trimester of pregnancy.

George McDonald Church studied DNA from living and from extinct species in the US during the twentieth and twenty-first centuries. Church helped to develop and refine techniques with which to describe the complete sequence of all the DNA nucleotides in an organism's genome, techniques such as multiplex sequencing, polony sequencing, and nanopore sequencing. Church also contributed to the Human Genome Project, and in 2005 he helped start a company, the Personal Genome Project. Church proposed to use DNA from extinct species to clone and breed new organisms from those species.

In 2002 Eric Davidson and his research team published 'A Genomic Regulatory Network for Development' in Science. The authors present the first experimental verification and systemic description of a gene regulatory network. This publication represents the culmination of greater than thirty years of work on gene regulation that began in 1969 with 'A Gene Regulatory Network for Development: A Theory' by Roy Britten and Davidson. The modeling of a large number of interactions in a gene network had not been achieved before. Furthermore, this model revealed behaviors of the gene networks that could only be observed at the levels of biological organization above that of the gene.

Sanger sequencing is a laboratory method that scientists use to determine the sequence of nucleotides within a piece of deoxyribonucleic acid, or DNA. Frederick Sanger, who studied biochemistry in the United Kingdom, and colleagues developed the technique in 1977. Sanger sequencing was one of the first methods to sequence long stretches of DNA accurately, allowing researchers to collect and analyze large amounts of genetic data. The technique uses modified nucleotides that terminate DNA synthesis at specific points, which results in fragments of varying lengths that researchers sort to determine the sequence of nucleotides. Sanger sequencing was one of the most widely used sequencing methods for thirty years after its creation and facilitated early genomic sequencing projects, such as the Human Genome Project, or HGP. As of 2025, Sanger sequencing remains a common technique despite the advent of newer sequencing technologies and plays a role in clinical settings and genetic counseling, a service that provides information on genetic conditions to people and their families.

Charles Rotimi is a researcher who studies the etiology of complex diseases and health disparities and advocates for the inclusion of greater racial and ethnic diversity in genomic repositories. In the early 2000s, Rotimi spearheaded the recruiting of African communities for participation in the International HapMap Project. As director of the Center for Research on Genomics and Global Health, or CRGGH, at the National Institutes of Health, or NIH, Rotimi led governmental research on human genetic variation and patterns of disease. Rotimi is a founding member of the Human Heredity and Health in Africa, or H3Africa, initiative, which aims to increase the representation of African populations in global genetic studies. Through his epidemiological research, leadership in advocacy groups for the support of African scientists, and his collaboration in genomic diversity initiatives, Rotimi promotes racial and ethnic representation in genetic research, especially regarding the inclusion of African people and the African diaspora.

Launched in 2002, the International HapMap Project was a collaborative effort among scientists from around the world to create a map of common patterns of genetic variation in the human genome. HapMap stands for haplotype map. A haplotype is a stretch of DNA nucleotides, or letters, that individuals inherit as a block because they lie relatively close together along a chromosome. For any particular region of a chromosome, there may be multiple different haplotypes present among humans, each characterized by a slightly different DNA sequence. By collecting and sequencing the DNA of initially 270 individuals from several different geographic regions, HapMap scientists were able to identify common haplotypes that exist among those individuals, as well as reliable markers to distinguish them. That collection of haplotypes and identifying markers—the HapMap—provided a shortcut for researchers who wanted to identify associations between those inherited DNA variants and particular human traits, especially common, complex diseases like heart disease and cancer.