Rare Structural Variants

摘要: In this chapter, we will briefly touch on the historical discoveries of large abnormalities in structure human genome. It is now clear that more subtle structural variants are fact ubiquitous and key to understanding spectrum risk for many diseases. While these changes individually rare, aggregate burden population significant. With mind, give an overview technologies developed assay a high-throughput manner at ever-increasing granularity, including array-based platforms next-generation sequencing. We then focus whole-exome sequencing, since disease studies date have adopted approach. Throughout, review some computer software algorithms available extracting variant information from experimental data. conclude with comparison strengths weaknesses various current provide small sampling emerging methods investigating range variation detail.