Rare Disease Genomics and Clinical Diagnostics

Abstract

Rare diseases are not rare, and many of them have an underlying genetic cause. This chapter provides an overview of the history of sequencing technologies and how they are used in rare disease research. More specifically, challenges and opportunities for the use of genomics analyses in rare disease research and clinical practice are discussed. Last but not least, organizational efforts in rare disease genomics have had great successes and such collaborative efforts are the key to success in implementing genomics in rare disease research and diagnostics.