遺傳學是基礎醫學重要一環，也是陽明立校的特色。創院初期醫學遺傳學先驅武光東教授便有遺傳研究所的規劃，於1988年開風氣之先，成立國內第一所從遺傳學角度鑽研生物醫學之研究所。設立之初規模雖小，然師資團隊皆為一時之選。除創所所長武光東與第二任所長陳文盛，更有多位優秀學者，如羅時成、周成功、林茂榮、榮總蕭廣仁與中研院孫以瀚、沈哲鯤等人加入，人才濟濟。該所結合傳統遺傳學與現代分子生物學技術，首屆雖僅招生九名碩士生，但畢業之後在研究上有傑出表現。

延續培育一流遺傳學者的願景，該所於1992年成立博士班，側重獨立研究能力的養成。為因應未來發展需要以基因體為基礎，從系統與整合角度研究生命現象， 2006年該所更名為「基因體科學研究所」，且為整合教學研究資源，連貫大學部與研究所課程等系所發展需求，與生命科學系整併為「生命科學系暨基因體科學研究所」，不但延續本校致力生命科學研究的精神，更讓教學與研究體系更加完備，打造優秀的生醫領導人才。

如前遺傳學研究所所長周成功教授所言說：破解基因密碼是生命科學研究的起點而非終點。在國際人類基因組定序計劃大規模展開之際，本校與台北榮總組成的「榮陽團隊」，成為揚名國際的起點。2002年更創立基因體中心，在榮總經費與國家型計畫的挹注下，基因體定序核心設施與定序技術日臻完備。在這些基礎上，本校持續與台北榮總、國家衛生研究院、中央研究院等機構合作，致力於這本「生命之書」的解讀。從黑猩猩第22號染色體、克雷白氏菌的解碼、發現長壽基因，以及利用跳躍基因（transposon）找出大腦發育疾病關鍵基因等，這些探索屢獲頂尖期刊高度肯定。 

Genetics is an important part of life sciences and a permanent feature of NYMU. Colloquium was offered by Professor Kuang-Dong Wuu, a pioneer in medical genetics, back to the early years of this university, and graduate institute was established in 1988, the first and only one that focuses on human genetics. Following the foundation of a Ph.D. program in genetics, the institute transformed as a response to the a shifting paradigm in life science research from genetics to genomics. Renamed "Genome Science Institute", in 2006, the research institute further integrated with the faculty of life sciences to form the Department of Life Sciences and Institute of Genome Sciences. It not only continues the spirit of devotion to life science research but also strengthens higher education system which allows the university to cultivate leading talents in the biomedical field.

As the former Director the Graduate Institute of Genetics Chen-Kung Chou, once said, decoding genetic sequences is the starting point of life science research, not the end. With the collaboration with the Taipei Veterans General Hospital, National Health Research Institutes and Academia Sinica, NYMU is able to be a leader in the global effort in interpreting genomes as "The book of life". From decoding of chimpanzee chromosome 22 and Klebsiella pneumonia, to using transposon to find the key gene that causes brain development diseases, these developments have been repeatedly recognized by top international journals.