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- W4285244568 abstract "Genetic variation contributes significantly to Parkinson’s disease (PD)Parkinson’s disease (PD) risk, onset, and progression. However, most of the common genetic variation that contributes to PD Parkinson’s disease (PD) is still unknown. This is in part since many previous genetic studies have focused solely on the contribution of single nucleotide variants (SNVs). Structural variants (SVs), such as transposable element (TE)Transposable element (TE) insertion variants, represent a major source of genetic variation in the human genome. Yet TE Transposable element (TE) insertion variants have not been characterized in a large-scale and genome-wide manner, and their contribution to the risk of PD Parkinson’s disease (PD) remains unexplored due to a lack of tooling to accurately detect and genotype TE Transposable element (TE) insertion varia nts. In this chapter, we describe the importance of including accurately called TE Transposable element (TE) insertion variants in routine genetic analyses. We give a brief overview of current TE Transposable element (TE) detection methods, focusing on describing the analysis of TE Transposable element (TE) insertion variants in whole genome sequencing data. Specifically, we describe a detailed protocol for genotypingGenotyping Alu TE Transposable element (TE) insertion variants with the TypeTE pipeline Pipelines ( https://github.com/clemgoub/TypeTE ), an open-source software. Finally, we outline future developments for the pipeline Pipelines , including incorporating other TE Transposable element (TE) classes such as SVAs and LINE-1s." @default.
- W4285244568 created "2022-07-14" @default.
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- W4285244568 date "2022-01-01" @default.
- W4285244568 modified "2023-10-01" @default.
- W4285244568 title "Transposable Element Structural Variants in Parkinson’s Disease: Focusing on Genotyping Alu Transposable Element Insertions with TypeTE" @default.
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- W4285244568 doi "https://doi.org/10.1007/978-1-0716-2357-2_3" @default.
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