Article

Improved Identification of Large-effect Rare Genetic Variants using Haplotype Aggregated Allele-specific Expression Data

2025-12-18

Abstract excerpt

Allele-specific expression (ASE) outlier detection is a powerful tool for identifying genes affected by large effect rare genetic regulatory variants but suffers from data sparsity and noisy signal in low-count genes. Genome phasing can be utilized to aggregate ASE signal along haplotypes to alleviate both sparsity and noise. Yet statistical tools for utilizing haplotype-level ASE data for rare variant interpretat...

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Literature Corpus work: 54ecda17-57e3-595c-9e5d-ab2b0e04287e
DOI: 10.64898/2025.12.16.25341855

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