Article

SIEVE: Sparse Interpretable Exome Variant Explainer

2026-08-06

Abstract excerpt

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 calibr...

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Literature Corpus work: c7baaa86-d513-5d75-838e-1f83e2741854
DOI: 10.64898/2026.08.01.742212

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