Next-generation diagnostics and disease-gene discovery with the Exomiser.Nature Protocols, 10(12):2004–2015, November 2015

Damian Smedley, Julius O B Jacobsen, Marten Jäger, Sebastian Köhler, Manuel Holtgrewe, Max Schubach, Enrico Siragusa, Tomasz Zemojtel, Orion J Buske, Nicole L Washington, William P Bone, Melissa A Haendel, Peter N Robinson · 2004 · Nature Protocols · DOI 10.1038/nprot.2015.124

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Teaching agentic AI to learn expert reasoning for rare disease diagnosis cs.AI · 2026-06-15 · unreviewed · ref 6

Next-generation diagnostics and disease-gene discovery with the Exomiser.Nature Protocols, 10(12):2004–2015, November 2015

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