Abstract

During the past 20 years, since I started as a postdoc, the world of genetics and genomics has changed dramatically. My main research goal throughout my career has been to understand human disease genetics, and I have developed comparative genomics and comparative genetics to generate resources and tools for understanding human disease. Through comparative genomics I have worked to sequence enough mammals to understand the functional potential of each base in the human genome as well as chosen vertebrates to study the evolutionary changes that have given many species their key traits. Through comparative genetics, I have developed the dog as a model for human disease, characterising the genome itself and determining a list of germ-line loci and somatic mutations causing complex diseases and cancer in the dog. Pulling all these findings and resources together opens new doors for understanding genome evolution, the genetics of complex traits and cancer in man and his best friend.

 抽象的

自从我开始担任博士后以来，在过去的 20 年里，遗传学和基因组学的世界发生了巨大的变化。我整个职业生涯的主要研究目标是了解人类疾病遗传学，并且我开发了比较基因组学和比较遗传学，以产生用于了解人类疾病的资源和工具。通过比较基因组学，我对足够多的哺乳动物进行了测序，以了解人类基因组中每个碱基的功能潜力，并对选定的脊椎动物进行了测序，以研究赋予许多物种关键特征的进化变化。通过比较遗传学，我将狗开发为人类疾病的模型，描述了基因组本身的特征，并确定了导致狗复杂疾病和癌症的一系列种系基因座和体细胞突变。将所有这些发现和资源整合在一起，为了解人类及其最好的朋友的基因组进化、复杂性状的遗传学和癌症打开了新的大门。