ArticleScientific reports2025
Optimizing UK biobank cloud-based research analysis platform to fine-map coronary artery disease loci in whole genome sequencing data.
Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed.
- Transformative Applications and Innovations in Next-Generation Sequencing Data Analysis.Journal of applied genetics · 2026Review
- Toward Responsible and Sustainable Data Sharing in Large-scale Cohort-based Genomic Research.Genomics, proteomics & bioinformatics · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We conducted the first comprehensive association analysis of a coronary artery disease (CAD) cohort within the recently released UK Biobank (UKB) whole genome sequencing dataset. We employed fine mapping tool PolyFun and pinpoint rs10757274 as the most likely causal SNV within the 9p21.3 CAD risk locus. Notably, we show that machine-learning (ML) approaches, REGENIE and VariantSpark, exhibited greater sensitivity compared to traditional single-SNV logistic regression, uncovering rs28451064 a known risk locus in 21q22.11. Our findings underscore the utility of leveraging advanced computational techniques and cloud-based resources for mega-biobank analyses. Aligning with the paradigm shift of bringing compute to data, we demonstrate a 44% cost reduction and 94% speedup through compute architecture optimisation on UK Biobank's Research Analysis Platform using our RAPpoet approach. We discuss three considerations for researchers implementing novel workflows for datasets hosted on cloud-platforms, to pave the way for harnessing mega-biobank-sized data through scalable, cost-effective cloud computing solutions.
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What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.