Human Genome Clinical Annotation Tool (h-GCAT)

A tool developed in a collaborative effort between Zhijie Jiang, PhD, Nicholas Tsinoremas, PhD at the Center for Computational Science at University of Miami
and Klaas Wierenga, MD at the Section of Genetics in the Department of Pediatrics at Oklahoma University Health Sciences Center


Input Example

Output Example

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Integrated with several important clinical and biological databases,
this tool is designed for the analysis of whole exome/genome sequencing data obtained from families affected by genetic disorder(s).

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1. Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) World Wide Web URL:
2. National Center for Biotechnology Information (NCBI), National Library of Medicine (Bethesda, MD). World Wide Web URL:
3. UCSC Genome Browser. World Wide Web URL:; contributors to the UCSC Human Genome Browser Project, as listed in: World Wide Web URL:
4. The Human Phenotype Ontology, World Wide Web URL:
5. The Gene Ontology, World Wide Web URL:
6. The Disease Ontology, World Wide Web URL:
6. FATHMM, anlalyze protein missense variants, World Wide Web URL:
7. PolyPhen-2 (Polymorphism Phenotyping v2), predict functional effects of human nsSNPs, World Wide Web URL:
8. Provean (Protein Variation Effect Analyzer), predict impacts of amino acid substitions or indels on the biological function of proteins,World Wide Web URL:
9. Advanced Computing Group at Center for Computational Science

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