Abstract
Several thousands of rare diseases have now been characterized. Development and advances of genomic sequencing platforms have accelerated the pace of new diseases discovery and their molecular underpinnings, with continuous additions to this burgeoning catalog of rare diseases. Connecting all of them are shared principles inherent to human genetics and genomics. This chapter will serve as a primer of those basic concepts with applications throughout this book and in rare disease research and treatment. An exhaustive survey of this topic would take a book in and of itself; this merely provides an overview of these concepts and serves as an accessible resource geared for the nongeneticist, beginning with cell biology and extending to classes of disorders and modes of inheritance. Woven throughout are aspects and concepts of genetics and genomics with broad application for most clinicians and scientists interested in the genomics of human diseases.
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