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July 27, 2026BMC BioinformaticsOpen Access

WGS2IBI: a cloud-based workflow for individualized Bayesian inference from whole genome sequencing data

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Authors

YSYasaman J. SoofiMRMd Asad RahmanJRJin Ren

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Overview

Randomized trial demonstrates efficient analysis of genetic variants in diverse populations, suggesting a scalable tool for precision medicine.

Key Points

  • The aim is to develop a scalable and reproducible genomic workflow for individualized and population-level analyses using whole genome sequencing data.
  • Implemented WGS2IBI as a cloud-based modular workflow using Common Workflow Language and Docker.
  • Conducted benchmarking on the Jackson Heart Study cohort, which included preprocessing of over 102 million variants.
  • Applied the workflow to real hypertension data from 1,821 unrelated Framingham Heart Study participants.
  • Preprocessing reduced 102 million variants to 18 million in approximately two hours at a cost of $20.83.
  • Population-level analyses completed for $0.44 (Global Search) and $11.44 (Fisher’s exact test).
  • Variants prioritized by IBI showed enrichment for lower minor allele frequency and relevance to blood pressure.

Cite This Study

Soofi et al. (2026) studied this question.

synapsesocial.com/papers/6a6700af40bca442e0d4a9abhttps://doi.org/10.1186/s12859-026-06520-1
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