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Human Molecular Genetics, as a field of study, emerged in the late 20th century with the advent of techniques such as recombinant DNA technology and polymerase chain reaction (PCR). The term "Human Molecular Genetics" was likely coined around the 1980s as researchers began to focus on understanding the genetic basis of human diseases at the molecular level. The field continues to evolve with advancements in genomics, bioinformatics, and gene editing technologies.

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