| 摘要 |
<p>There is considerable evidence that significant factor underlying the individual variability in response to disease, therapy and prognosis lies in a person's genetic make-up. There have been numerous examples relating that polymorphisms within a given gene can alter the functionality of the protein encoded by that gene thus leading to a variable physiological response. In order to bring about the integration of genomics into medical practice and enable design and building of a technology platfom which will enable the everyday practice of molecular medicine a way must be invented for the DNA sequence data to be aligned with the identification of genes central to the induction, development, progression and outcome of disease or physiological states of interest. According to the invention, the number of genes and their configurations (mutations and polymorphisms) needed to be identified in order to provide critical clinical information concerning individual prognosis is considerably less than the 100,000 thought to comprise the human genome. The identification of the identity of the core group of genes enables the invention of a design for genetic profiling technologies.</p> |
