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Epilepsy is a brain disorder that triggers recurring seizures. It is the fourth the most common neurological disorders in the world, according to the Epilepsy Foundation. The Centers for Disease Control and Prevention estimates that 65 million people worldwide have active epilepsy. In 2015, 1.2% of the total U.S. population — 3 million adults and nearly 500,000 children — had active epilepsy.

There are many different causes of epilepsy, including genetics, head trauma, brain abnormalities, infection, prenatal injury and developmental disorders, such as autism.

Seizure symptoms vary greatly and can manifest in a person as uncontrollable limb movements, staring, muscle stiffness, confusion and loss of consciousness or awareness.

These symptoms are not mutually exclusive. Some patients with epilepsy experience multiple types of seizures.

Epil…

Introduction

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The study of genetics dates to the mid-19th century, from the works of Gregor Mendel, but it wasn’t until the second half of the 20th century that the field of genetics made great strides. The completion of the Human Genome Project and other significant technological advances were the driving factors for this significant impact. In light of these advances, more than 1,800 disease genes have been discovered, and more than 2000 genetic tests have become available to the public.

Advances in technology such as next-generation sequencing (NGS) have allowed scientists to perform experiments at a rate that was never possible before. NGS is a DNA sequencing technology that allows the whole genome of an individual to be sequenced within one day, producing a large amount of clinical health data. Unfortunately, maintaining small data sets in a centralized location for analysis (Ge…

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