Titlebook: Deep Sequencing Data Analysis; Noam Shomron Book 2021Latest edition Springer Science+Business Media, LLC, part of Springer Nature 2021 ChI

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Developing Drug Products in an Aging Societyiants (ASVs) present in a set of samples. This chapter is written from a bioinformatic point of view; therefore, the specific experimental protocols are not detailed, but rather the impact of various experimental decisions on the downstream analysis is described. Emphasis is made on the transition f

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https://doi.org/10.1007/978-3-319-43099-7model organisms poses unique challenges, due to unavailability of a high-quality genome reference and to relative sparsity of tools for downstream functional analyses. In this chapter, we provide an overview of the analysis steps in RNA-Seq projects of nonmodel organisms, while elaborating on aspect

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Comprehensive Geriatric Assessmenttly, many fields have seen the immense potential of deep learning to solve various tasks in ways which outperformed many other traditional methods. Genomic research could be the next frontier to take advantage of deep learning, as it has the perfect combination of vast amounts of data and diverse ta

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Kate S. Wolfe,Kate Lyons,Carlos Guevarainvasive methods (e.g., amniocentesis). The procedure is based on the presence of fetal DNA within the mother’s plasma cell-free DNA (cfDNA). Today, NIPD is performed for chromosomal abnormalities (e.g., Down syndrome) and some large deletions/duplications. It is also available for point mutations b

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Carlos Guevara,Kate Lyons,Kate S. Wolfeata. Over the last few years, despite the constant decrease in the price of sequencing, whole-genome sequencing (WGS) of association panels comprising a large number of samples remains cost-prohibitive. Therefore, most GWAS populations are still genotyped using low-coverage genotyping methods result

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Kate S. Wolfe,Kate Lyons,Carlos Guevara multiregion sequencing and its analysis, including the study design and sampling strategy, current understanding of the tumor evolution model, and a protocol for multiregion sequencing analysis of DNA-sequencing data.

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Thorsten Kliewe,Tobias Kesting,Thomas Baakenormed by deep learning is genomics. In the past decade, numerous genomics studies have adopted deep learning and its applications range from predicting regulatory elements to cancer classification. Despite its dominating efficacy in these applications, deep learning is not without drawbacks. A promi

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