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In recent years, with the development of high-throughput technologies and the increase of omics data, molecular diagnostics and the analysis of patients' exact causative genes become possible. However, massive data also challenges traditional methods. GWAS(Genome-Wide Association Study) traditional methods are usually used for causative gene discovery of single-gene disorders. But because they needs...
Accurate calling of structural variations such as deletions with short sequence reads from high-throughput sequencing is an important but challenging problem in the field of genome analysis. There are many existing methods for calling deletions. At present, not a single method clearly outperforms all other methods in precision and sensitivity. A popular strategy used by several authors is combining...
We have reached the era of full genome sequencing using high throughput sequencing technologies pouring out gigabases of reads in a day. To fully benefit from such a profusion of data high performance tools and systems are needed to extract the information lying within the sequences. This paper provides an overview of the evolution of high-throughput sequencing and the tools, infrastructure and data...
High-throughput sequencing technology and bioinformatics have identified chimeric RNAs (chRNAs), raising the possibility of chRNAs expressing particularly in diseases can be used as potential biomarkers in both diagnosis and prognosis. The task of discriminating true chRNA from the false ones poses an interesting Machine Learning (ML) challenge. First of all, the sequencing data may contain false...
Transitional (TR) B cells are immature B cells that have migrated from the bone marrow to peripheral lymphoid organs, but can still undergo selection against autoreactivity. TR cells that survive selection eventually develop into mature naïve B cells (CD27-IgD+, NA). Upon exposure to antigen, NA cells may become IgM memory (CD27+IgD+, MM) or "classical", classswitched memory (CD27+IgD-,...
The ability to detect the genetic variations between two individuals is an essential component for genetic studies. In these studies obtaining the genome sequence of both individuals is the first step towards variation detection problem. The emergence of high-throughput sequencing (HTS) technology has made DNA sequencing practical, and is widely used by diagnosticians to increase their knowledge about...
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