Whose Turn? Chromosome Research and the Study of the Human Genome

Abstract

A common account sees the human genome sequencing project of the 1990s as a "natural outgrowth" of the deciphering of the double helical structure of DNA in the 1950s. The essay aims to complicate this neat narrative by putting the spotlight on the field of human chromosome research that flourished at the same time as molecular biology. It suggests that we need to consider both endeavors - the human cytogeneticists who collected samples and looked down the microscope and the molecular biologists who probed the molecular mechanisms of gene function - to understand the rise of the human genome sequencing project and the current genomic practices. In particular, it proposes that what has often been described as the "molecularization" of cytogenetics could equally well be viewed as the turn of molecular biologists to human and medical genetics - a field long occupied by cytogeneticists. These considerations also have implications for the archives that are constructed for future historians and policy makers.

Aplicabilidade clínica da técnica de sequenciamento de nova geração com enfoque em displasias esqueléticas

“…O sequenciamento Sanger foi também a técnica predominantemente utilizada para a identificação completa do genoma humano (Projeto Genoma Humano), publicado em 2003, ao custo de bilhões de dólares. Esse projeto permitiu concluir que há nos seres humanos aproximadamente 20.000 genes, número inferior às estimativas iniciais (Chong et al,2015;de Chadarevian, 2017). Devido ao grande avanço tecnológico associado a esse projeto, o valor para sequenciar um novo genoma humano completo (WGS -do inglês Whole Genome Sequencing) em 2003, ao término do projeto, seria algo na casa de 50-100 milhões de dólares em vez de bilhões de dólares (NIHhttps://www.genome.gov/sequencingcostsdata/).…”