Data Analysis in Rare Disease Diagnostics

There are more than 8000 documented rare diseases in the world. While each disease is rare in itself, it is estimated that 1 in every 15 or 20 persons is affected by some rare disease. Most rare diseases are caused by just one or two small changes in the genome. Identifying the causative variant from the millions of variants that differentiate one person’s genome from another is a challenging task. In this article, we provide an overview of the data processing that takes place during the multi-stage rare disease diagnosis process. At each stage, we describe algorithms and methods that are in use in diagnostic laboratories and also describe how machine learning in general and deep learning in particular are improving the process.