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An efficient C++ version of gene-level ASE estimation model used in BEASTIE pipeline

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QuickBEAST: A Comprehensive Tool for Estimating ASE Effect Size

Overview

QuickBEAST is a robust and scalable Bayesian model for estimating allele-specific expression (ASE) from high-throughput sequencing data. It is used in BEASTIE, designed for fast application across large numbers of simulations. It estimates the binomial proportion p representing Allele-Specific Expression (ASE). The primary output, qb_mode, is the Maximum A Posteriori (MAP) effect size (mode of p) estimated via a subgrid search algorithm. Additionally, empirical p values are computed from 1000 null simulations for each gene. The ASE effect size (θ) is then calculated downstream using the relation (θ = p/(1-p)), providing a precise quantification of the expression bias between alleles.

Build QuickBEAST

apt-get install libgsl-dev
make

Input format

  • Format: The data is presented in a tab-delimited text file without headers.
  • Fields:
    • geneID: Identifier for the gene.
    • #hetX: X denotes the number of heterozygous sites.
    • ALTn_allele_count and REFn_allele_count: Allele counts at the nth heterozygous site.
    • pi(n-1): n−1 π values, where each π is a switching error parameter for each SNP pair.
geneID 1 ALT1_allele_count REF1_allele_count
geneID 2 ALT1_allele_count REF1_allele_count ALT2_allele_count REF2_allele_count pi
geneID 3 ALT1_allele_count REF1_allele_count ALT2_allele_count REF3_allele_count ALT3_allele_count REF2_allele_count pi1 pi2

Usage

Run QuickBEAST directly with test data to obtain qb estimates
in_file = test_data/bimodal_genes
out_qb_file = bimodal_genes_qb
./QuickBEAST --alpha 8.789625 --beta 8.789625 --mean --mode -f $in_file --fixMaxHetSite > $out_qb_file

Citing

Please cite this paper when using QuickBEAST for your publications.

Zou, X., Gomez, Z. W., Reddy, T. E., Allen, A. S., Majoros, W. H. (2024). Bayesian Estimation of Allele-Specific
Expression in the Presence of Phasing Uncertainty. bioRxiv, doi: 10.1101/2024.08.09.607371.

Acknowledgements

  • Special thanks to William H. Majoros for his guidance and support.
  • Thanks to the Allen Lab for providing the resources and environment to develop QuickBEAST.

Contact

If you have any questions, feel free to reach out to me at Xue Zou.

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