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

2025-12-18 genetic and genomic medicine Title + abstract only

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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 interpretation are lacking. Here, we present ANEVA-h, to quantify the amount of genetic variat...

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

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