Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias.
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| Abstract | We characterized the role of structural variants, a largely unexplored type of genetic variation, in two non-Alzheimer's dementias, namely Lewy body dementia (LBD) and frontotemporal dementia (FTD)/amyotrophic lateral sclerosis (ALS). To do this, we applied an advanced structural variant calling pipeline (GATK-SV) to short-read whole-genome sequence data from 5,213 European-ancestry cases and 4,132 controls. We discovered, replicated, and validated a deletion in as a novel risk locus for LBD and detected the known structural variants at the and loci as associated with FTD/ALS. We also identified rare pathogenic structural variants in both LBD and FTD/ALS. Finally, we assembled a catalog of structural variants that can be mined for new insights into the pathogenesis of these understudied forms of dementia. |
| Year of Publication | 2023
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| Journal | Cell genomics
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| Volume | 3
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| Issue | 6
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| Pages | 100316
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| Date Published | 06/2023
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| ISSN | 2666-979X
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| DOI | 10.1016/j.xgen.2023.100316
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| PubMed ID | 37388914
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