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The dark genome and pleiotropy: challenges for precision medicine.
Mammalian Genome ( IF 2.5 ) Pub Date : 2019-08-23 , DOI: 10.1007/s00335-019-09813-4 Steve D M Brown 1 , Heena V Lad 1
Mammalian Genome ( IF 2.5 ) Pub Date : 2019-08-23 , DOI: 10.1007/s00335-019-09813-4 Steve D M Brown 1 , Heena V Lad 1
Affiliation
Surprisingly we remain ignorant of the function of the majority of genes in the human and mouse genomes. The dark genome is a major obstacle to the interpretation of the function of human genetic variation and its impact on disease. At the same time, pleiotropy, how individual variants influence multiple phenotypes, is key to understanding gene function and the role of genes and genetic networks in disease systems. Both understanding the genetics of disease and developing new therapeutic approaches and advances in precision medicine are all compromised by our limited knowledge of gene function and pleiotropic effects. Illuminating the dark genome and revealing pleiotropy across the genome requires a highly coordinated and international effort to acquire and analyse high-dimensional phenotype data from model organisms. We describe briefly how the International Mouse Phenotyping Consortium is addressing these challenges and the novel features of the pleiotropic landscape that are revealed by functional genomics programmes at genome-wide scale.
中文翻译:
黑暗的基因组和多效性:精密医学的挑战。
令人惊讶的是,我们仍然不了解人类和小鼠基因组中大多数基因的功能。黑暗基因组是解释人类遗传变异功能及其对疾病影响的主要障碍。同时,多效性是个体变异如何影响多种表型的关键,是理解基因功能以及基因和遗传网络在疾病系统中的作用的关键。我们对基因功能和多效性作用的了解有限,既无法理解疾病的遗传学,也无法开发新的治疗方法,也无法发展精密医学。照亮黑暗的基因组并揭示整个基因组的多效性需要高度协调的国际努力,以获取和分析来自模型生物的高维表型数据。
更新日期:2020-03-28
中文翻译:
黑暗的基因组和多效性:精密医学的挑战。
令人惊讶的是,我们仍然不了解人类和小鼠基因组中大多数基因的功能。黑暗基因组是解释人类遗传变异功能及其对疾病影响的主要障碍。同时,多效性是个体变异如何影响多种表型的关键,是理解基因功能以及基因和遗传网络在疾病系统中的作用的关键。我们对基因功能和多效性作用的了解有限,既无法理解疾病的遗传学,也无法开发新的治疗方法,也无法发展精密医学。照亮黑暗的基因组并揭示整个基因组的多效性需要高度协调的国际努力,以获取和分析来自模型生物的高维表型数据。