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: http://www.omim.org.
2. National Center for Biotechnology Information (NCBI), National Library of Medicine (Bethesda, MD). World Wide Web URL: http://www.ncbi.nlm.nih.gov/.
3. UCSC Genome Browser. World Wide Web URL: http://genome.ucsc.edu/; contributors to the UCSC Human Genome Browser Project, as listed in: World Wide Web URL: http://genome.ucsc.edu/goldenPath/credits.html#human_credits.
4. The Human Phenotype Ontology, World Wide Web URL: http://www.human-phenotype-ontology.org.
5. The Gene Ontology, World Wide Web URL: http://www.geneontology.org/.
6. The Disease Ontology, World Wide Web URL: http://disease-ontology.org/.
6. FATHMM, anlalyze protein missense variants, World Wide Web URL: http://fathmm.biocompute.org.uk/inherited.html.
7. PolyPhen-2 (Polymorphism Phenotyping v2), predict functional effects of human nsSNPs, World Wide Web URL: http://genetics.bwh.harvard.edu/pph2/.
8. Provean (Protein Variation Effect Analyzer), predict impacts of amino acid substitions or indels on the biological function of proteins,World Wide Web URL: http://provean.jcvi.org/index.php.
9. High Performance Computing Group at Center for Computational Science
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