Article

A global survey of System Biology-based predictions of gene-rare disease associations to enhance new diagnoses

2026-02-11

Abstract excerpt

<h4>ABSTRACT</h4> In rare disease diagnosis, described genotype-phenotype associations are evaluated first. In the absence of strong evidence, WES and WGS provide hundred to million other genetic variants, most poorly annotated, that need to be prioritized. While several in silico approaches leverage existing gene-disease knowledge to predict novel associations, doing so in isolation can hide how different genes...

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Literature Corpus work: 230e4448-5b7b-581f-a4d5-5937978ebe91
DOI: 10.64898/2026.02.09.701767

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