Abstract：
Diseases are caused by genetic and/or environmental factors. It is important to understand the pathomechanism of monogenic diseases that are caused only by genetic factors, especially prenatal- or childhood-onset diseases for pediatricians. Identifying \"novel\" disease genes and elucidating how genomic changes lead to human phenotypes would develop new therapeutic approaches for rare diseases for which no fundamental cure has yet been established. Genomic analysis has evolved along with the development of analytical techniques, from Sanger sequencing (first-generation sequencing) to techniques such as comparative genomic hybridization, massive parallel short-read sequencing (using a next-generation sequencer or second-generation sequencer) and long-read sequencing (using a next-next generation sequencer or third-generation sequencer). I have been researching human genetics using conventional and new technologies, together with my mentors and numerous collaborators, and have identified genes responsible for more than 60 diseases. Here, an overview of genomic analyses of monogenic diseases that aims to identify novel disease genes, and several examples using different approaches depending on the disease characteristics are presented.
摘要：
疾病是由遗传和/或环境因素引起的。重要的是要了解仅由遗传因素引起的单基因疾病的病理机制，尤其是儿科医生的先发或儿童期发病疾病。识别“新”疾病基因并阐明基因组变化如何导致人类表型，将为尚未建立基本治疗方法的罕见疾病开发新的治疗方法。基因组分析随着分析技术的发展而发展，从Sanger测序（第一代测序）到比较基因组杂交等技术，大规模并行短读测序（使用下一代测序仪或第二代测序仪）和长读测序（使用下一代测序仪或第三代测序仪）。我一直在使用传统和新技术研究人类遗传学，连同我的导师和众多合作者，并确定了60多种疾病的基因。这里,旨在识别新疾病基因的单基因疾病的基因组分析概述，并介绍了根据疾病特征使用不同方法的几个例子。
