Article

DITTO: An Explainable Machine-Learning Model for Transcript-Specific Variant Pathogenicity Prediction

2024-04-12

Abstract excerpt

Accurate diagnosis for the 400 million people with rare diseases is critical for healthcare decisions, prognosis, understanding disease mechanisms, and identification of treatments. Despite advances in genome sequencing, barriers such as high interpretation costs, diagnostic expertise, throughput associated delays, and uncertain variant classifications persist, with demand exceeding capacity. Many variant classifi...

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Literature Corpus work: 0d43597b-c0f0-505f-aac8-b003d328e592
DOI: 10.20944/preprints202404.0837.v1

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