High-depth whole-genome sequencing identifies structure variants, copy number variants and short tandem repeats associated with Parkinson's disease.
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ABSTRACT:
SUBMITTER: Wang C
PROVIDER: S-EPMC11266557 | biostudies-literature | 2024 Jul
REPOSITORIES: biostudies-literature
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High-depth whole-genome sequencing identifies structure variants, copy number variants and short tandem repeats associated with Parkinson's disease.
Wang Chaodong C Liu Hankui H Li Xu-Ying XY Ma Jinghong J Gu Zhuqin Z Feng Xiuli X Xie Shu S Tang Bei-Sha BS Chen Shengdi S Wang Wei W Wang Jian J Zhang Jianguo J Chan Piu P
NPJ Parkinson's disease 20240723 1
While numerous single nucleotide variants and small indels have been identified in Parkinson's disease (PD), the contribution of structural variants (SVs), copy number variants (CNVs), and short tandem repeats (STRs) remains poorly understood. Here we investigated the association using the high-depth whole-genome sequencing data from 466 Chinese PD patients and 513 controls. Totally, we identified 29,561 SVs, 32,153 CNVs, and 174,905 STRs, and found that CNV deletions were significantly enriched ...[more]
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