The role of structural variations in Alzheimer's disease and other neurodegenerative diseases.
The role of structural variations in Alzheimer's disease and other neurodegenerative diseases.
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DOI：
10.3389/fnagi.2022.1073905
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发表时间：
2022
影响因子：
4.8
通讯作者：
中科院分区：
文献类型：
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作者：
Dozens of single nucleotide polymorphisms (SNPs) related to Alzheimer’s disease (AD) have been discovered by large scale genome-wide association studies (GWASs). However, only a small portion of the genetic component of AD can be explained by SNPs observed from GWAS. Structural variation (SV) can be a major contributor to the missing heritability of AD; while SV in AD remains largely unexplored as the accurate detection of SVs from the widely used array-based and short-read technology are still far from perfect. Here, we briefly summarized the strengths and weaknesses of available SV detection methods. We reviewed the current landscape of SV analysis in AD and SVs that have been found associated with AD. Particularly, the importance of currently less explored SVs, including insertions, inversions, short tandem repeats, and transposable elements in neurodegenerative diseases were highlighted.
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影响因子：
3
作者：
Cáceres A;Sindi SS;Raphael BJ;Cáceres M;González JR
通讯作者：
González JR
影响因子：
10.6
作者：
Buizer-Voskamp, Jacobine E.;Muntjewerff, Jan-Willem;Strengman, Eric;Sabatti, Chiara;Stefansson, Hreinn;Vorstman, Jacob A. S.;Ophoff, Roel A.
通讯作者：
Ophoff, Roel A.
影响因子：
3.7
作者：
Lee WP;Tucci AA;Conery M;Leung YY;Kuzma AB;Valladares O;Chou YF;Lu W;Wang LS;Schellenberg GD;Tzeng JY
通讯作者：
Tzeng JY
影响因子：
6.7
作者：
通讯作者：
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