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.

中文翻译：

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罕见病诊断中的数据分析

世界上有8000多种记录在案的罕见疾病。虽然每种疾病本身都很罕见，但估计每 15 或 20 人中就有 1 人患有某种罕见疾病。大多数罕见疾病仅由基因组中的一两个小变化引起。从数百万个将一个人的基因组与另一个人区分开来的变异中识别致病变异是一项具有挑战性的任务。在本文中，我们概述了在多阶段罕见病诊断过程中发生的数据处理。在每个阶段，我们都会描述诊断实验室中使用的算法和方法，并描述一般机器学习和特别是深度学习如何改进过程。