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Article

Functional regulatory variants implicate distinct transcriptional networks in dementia.

Science (New York, N.Y.) - 19 Aug 2022

Cooper Yonatan A, Teyssier Noam, Dräger Nina M, Guo Qiuyu, Davis Jessica E, Sattler Sydney M, Yang Zhongan, Patel Abdulsamie, Wu Sarah, Kosuri Sriram, Coppola Giovanni, Kampmann Martin, Geschwind Daniel H

Abstract excerpt

Predicting the function of noncoding variation is a major challenge in modern genetics. In this study, we used massively parallel reporter assays to screen 5706 variants identified from genome-wide association studies for both Alzheimer's disease (AD) and progressive supranuclear palsy (PSP), identifying 320 functional regulatory variants (frVars) across 27 loci, including the complex 17q21.31 region. We...

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Identifiers

PMID: 35981026
DOI: 10.1126/science.abi8654

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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