Genomic mosaicism: A neglected factor that promotes variability in asthma diagnosis

2019 
Abstract To elucidate the genetic architecture of asthma continues to be a challenge for molecular biologists and medical researchers. However, powerful genomic technologies are at disposal to help decipher complete human genomes; the genetic variability in asthma hinders the discovery of common molecular markers for this disease. In this context, we purpose to explore genomic mosaicism on asthma cells’ biology as a strategy to discover key mechanisms, which can complement or re-define asthma diagnosis. Recent evidences showed that genomic mosaicism could be a normal event. In brains, each neuron may harbor hundreds of genetic alterations, which may contribute to neuronal diversity. Thus, can mosaicism be a natural motor of diversity in asthma? Why this genetic event is little described in scientific literature? To discuss these questions, we perform a critical review about the normality of genomic mosaicism; moreover, we examine the difficulty of current experimental approaches to detect different genotypes in cell populations of one individual.
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