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Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias

4 May 2023

Abstract excerpt

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...

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PMID: 37388914
DOI: 10.1016/j.xgen.2023.100316

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