During the mid-nineteenth century, Johann Gregor Mendel experimented with pea plants to develop a theory of inheritance. In 1843, while a monk in the Augustian St Thomas's Abbey in Brünn, Austria, now Brno, Czech Repubic, Mendel examined the physical appearance of the abbey's pea plants (Pisum sativum) and noted inconsistencies between what he saw and what the blending theory of inheritance, a primary model of inheritance at the time, predicted. With his experiments, which he recored in "Versuche uber Pflanzenhybriden" ("Experiments in Plant Hybridization") in 1865, Mendel discredited the blending theory of inheritance, and from them he proposed laws for inheritance patterns. Despite the fact that Mendel's work did not define all aspects of inheritance, his ideas and laws contributed to later concepts of traits, specifically that offspring inherit traits from their parents via genes, that an offspring has at least two genetic factors for any given qualitative trait, and that the offspring inherits the genetic factors in equal proportion from both parents.

Walter Stanborough Sutton studied grasshoppers and connected the phenomena of meiosis, segregation, and independent assortment with the chromosomal theory of inheritance in the early twentieth century in the US. Sutton researched chromosomes, then called inheritance mechanisms. He confirmed a theory of Wilhelm Roux, who studied embryos in Breslau, Germany, in the late 1880s, who had argued that chromosomes and heredity were linked. Theodor Boveri, working in Munich, Germany, independently reached similar conclusions about heredity as Sutton. Later scientists named the theory The Sutton-Boveri Theory, or The chromosomal theory of inheritance.

At the turn of the twentieth century, William Bateson studied organismal variation and heredity of traits within the framework of evolutionary theory in England. Bateson applied Gregor Mendel's work to Charles Darwin's theory of evolution and coined the term genetics for a new biological discipline. By studying variation and advocating Mendelian genetics, Bateson furthered the field of genetics, encouraged the use of experimental methodology to study heredity, and contributed to later theories of genetic inheritance.

Johann Gregor Mendel studied plants and their patterns of inheritance in Austria during the nineteenth century. Mendel experimented with the pea plant, Pisum, and his publication, 'Versuche uber Pflanzenhybriden' (“Experiments on Plant Hybridization”), published in 1866, revolutionized theories of trait inheritance. Mendel’s discoveries relating to factors, traits, and how they pass between generations of organisms enabled scientists in the twentieth century to build theories of genetics.

Muriel Wheldale Onslow studied flowers in England with genetic and biochemical techniques in the early twentieth century. Working with geneticist William Bateson, Onslow used Mendelian principles and biochemical analysis together to understand the inheritance of flower colors at the beginning of the twentieth century. Onslow's study of snapdragons, or Antirrhinum majus, resulted in her description of epistasis, a phenomenon in which the phenotypic effect of one gene is influenced by one or more other genes. She discovered several biochemicals related to color formation. Onslow's methodology also partly contributed to the establishment of the field of chemical genetics.

Wilhelm Johannsen in Denmark first proposed the distinction between genotype and phenotype in the study of heredity in 1909. This distinction is between the hereditary dispositions of organisms (their genotypes) and the ways in which those dispositions manifest themselves in the physical characteristics of those organisms (their phenotypes). This distinction was an outgrowth of Johannsen's experiments concerning heritable variation in plants, and it influenced his pure line theory of heredity. While the meaning and significance of the genotype-phenotype distinction has been a topic of debate-among Johannsen's contemporaries, later biological theorists, and historians of science-many consider the distinction one of the conceptual pillars of twentieth century genetics. Moreover some have used it to characterize the relationships between studies of development, genetics, and evolution.