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Optical genome mapping of structural variants in Parkinson’s disease-related induced pluripotent stem cells

19 Oct 2024

Abstract excerpt

BACKGROUND: Certain structural variants (SVs) including large-scale genetic copy number variants, as well as copy number-neutral inversions and translocations may not all be resolved by chromosome karyotype studies. The identification of genetic risk factors for Parkinson's disease (PD) has been primarily focused on the gene-disruptive single nucleotide variants. In contrast, larger SVs, which may significantly...

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PMID: 39425080
DOI: 10.1186/s12864-024-10902-1

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