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A Specialized Reference Panel with Structural Variants Integration for Improving Genotype Imputation in Alzheimer’s Disease and Related Dementias (ADRD)

2024-07-23

Abstract excerpt

<h4>Summary</h4> We developed an imputation panel for Alzheimer’s disease (AD) and related dementias (ADRD) using whole-genome sequencing (WGS) data from the Alzheimer’s Disease Sequencing Project (ADSP). Recognizing the significant associations between structural variants (SVs) and AD, and their underrepresentation in existing public reference panels, our panel uniquely integrates single nucleotide variants (SNVs...

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Literature Corpus work
4eb59cdd-45a8-5e33-8af6-ded204afe042
DOI
10.1101/2024.07.22.24310827
Open publication

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A Specialized Reference Panel with Structural Variants Integration for Improving Genotype Imputation in Alzheimer’s Disease and Related Dementias (ADRD)DOI 10.1101/2024.07.22.24310827
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