Article

DITTO: An explainable machine-learning model for transcript- specific variant pathogenicity prediction

2026-03-04

Abstract excerpt

<title>Abstract</title> <p>Accurate classification of genetic variants is critical for medical decision-making, providing insights into disease mechanisms, and enabling therapeutic discovery. While numerous methods exist, they often address limited variant types, lack transcript awareness, and operate as opaque black boxes. To address these issues, we developed DITTO - a unified, explainable, transcript-aware adv...

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Literature Corpus work: a0b44428-32c2-5ee1-a919-99f3b9d7ac98
DOI: 10.21203/rs.3.rs-8930088/v1

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