Revista de trastornos genéticos e informes genéticos

Genetic Studies of Complex Diseases in the Sequence Era

Momiao Xiong

Genetic Studies of Complex Diseases in the Sequence Era

Fast and cheaper next generation sequencing (NGS) technologies will generate unprecedentedly massive (thousands or even ten thousands of individuals) and highly-dimensional (ten or even dozens of millions) genomic and epigenomic variation data. Due to advances in measurement technologies and communications, a large panel of physiological data including all medical treatments and outcomes accumulated over the patient’s lifetime is monitored and collected. Analysis of these extremely big and diverse types of data sets provide invaluable information for holistic discovery of the genetic and epigenetic structure of disease and prediction, prevention, diagnosis and treatment of disease, but also pose great conceptual, analytical and computational challenges.