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◆ bioRxiv : the preprint server for biology2026-08-06· bioinformatics

SIEVE: Sparse Interpretable Exome Variant Explainer.

Davide Bagordo, Cezar Grigorean, Andrea Mazzanti, Massimiliano Ruocco, Francesco Lescai

原始摘要(英文原文)· Original abstract
Whole-exome case-control studies contain rare and common variation, yet analytical methods usually partition the frequency spectrum, discard positional context, or depend on fixed annotations. We present SIEVE, a deep-learning framework for interpretable variant and gene prioritisation. It reads every observed exonic variant without a frequency filter, represents genomic position through self-attention, and calibrates attributions against a permuted-label null. Across coronary artery disease, early-onset myocardial infarction and Crohn's disease, discrimination matches the liability-threshold expectation for each trait, while recovery of catalogued associations rises with annotation depth. Against burden testing, single-variant association and polygenic scoring, SIEVE recovers overlapping but largely distinct candidates.
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SIEVE: Sparse Interpretable Exome Variant Explainer. — 科研速览 Science Skim