Article
The Early-Onset Alzheimer's Disease Whole-Genome Sequencing Project: Study design and methodology.
Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 Sept 2023
Ray Nicholas R, Ayodele Temitope, Jean-Francois Melissa, Baez Penelope, Fernandez Victoria, Bradley Joseph, Crane Paul K, Dalgard Clifton L, Kuzma Amanda, Nicaretta Heather, Sims Rebecca, Williams Julie, Cuccaro Michael L, Pericak-Vance Margaret A, Mayeux Richard, Wang Li-San, Schellenberg Gerard D, Cruchaga Carlos, Beecham Gary W, Reitz Christiane
Abstract excerpt
INTRODUCTION: Sequencing efforts to identify genetic variants and pathways underlying Alzheimer's disease (AD) have largely focused on late-onset AD although early-onset AD (EOAD), accounting for ∼10% of cases, is largely unexplained by known mutations, resulting in a lack of understanding of its molecular etiology. METHODS: Whole-genome sequencing and harmonization of clinical, neuropathological, and biomarker...
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