Article

Leveraging functional annotations to map rare variants associated with Alzheimer’s disease with gruyere

2024-12-08

Abstract excerpt

The increasing availability of whole-genome sequencing (WGS) has begun to elucidate the contribution of rare variants (RVs), both coding and non-coding, to complex disease. Multiple RV association tests are available to study the relationship between genotype and phenotype, but most are restricted to per-gene models and do not fully leverage the availability of variant-level functional annotations. We propose Geno...

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Literature Corpus work: d2fabf93-f330-5279-b215-31bdae460e83
DOI: 10.1101/2024.12.06.24318577

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