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Article

PANTHER-PSEP: predicting disease-causing genetic variants using position-specific evolutionary preservation.

Bioinformatics (Oxford, England) - 15 Jul 2016

Tang Haiming, Thomas Paul D

Abstract excerpt

UNLABELLED: PANTHER-PSEP is a new software tool for predicting non-synonymous genetic variants that may play a causal role in human disease. Several previous variant pathogenicity prediction methods have been proposed that quantify evolutionary conservation among homologous proteins from different organisms. PANTHER-PSEP employs a related but distinct metric based on 'evolutionary preservation': homologous...

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PMID: 27193693
DOI: 10.1093/bioinformatics/btw222

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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