Phenote Mark Gibson Berkeley Bioinformatics and Ontology Project (BBOP) National Center for Biomedical Ontologies(NCBO) Lawrence Berkeley National Lab Outline • What Phenote does now • What Phenote aspires to • Demo What is Phenote? A tool for annotating Phenotypes 1. Curator reads about a phenotype in the literature related to taxonomy or genotype 2. Curator enters genotype(or taxonomy) 3. Curator enters genetic context (optional) 4. Curator searches/enters Entity (e.g. Anatomy) 5. Curator searches/enters PATO attribute/value Phenote Current Phenotype Character in Phenote • • • • DB ID/genotype/taxonomy Genetic Context Anatomy Term (Entity) PATO value Phenotype (clinical sign) = entity + attribute + value + placement + hypoteloric P1 = eye P2 P3 = midface + development + hypoplastic + hypertrophied = kidney + size shh-/(holoprosencephaly) From M. Westerfield Phenotype (clinical sign) = entity + attribute + value Anatomical ontology Cell & tissue ontology Developmental ontology Gene ontology + PATO (phenotype and trait ontology) biological process molecular function cellular component From M. Westerfield Term Completion • All possible terms displayed as you type Completion Search • Can search on: Term, Synonym, Definition, Obsolete Term Info • Mouse over terms in completion list gives more info: Synonyms,Definition, Parent relationships, Child relationships, Whether obsolete • Relationship terms are clickable Phenotype Character Table • List of Phenotype Character instances • Operations: New, Delete, Copy Recent additions • • • • • Configuration Data adapter (FlyBase) Genetic context field Term info navigation Pheno xml writeback ToDo… What Phenote aspires to… • Other Entities: GO, Cell Type… – – – • Entity chooser Post Coordinated Term(cross product) Relational Quality & Secondary Entity More Character Fields: Stage, Pub ID, Figure ID, Quantity/Units, other “Qualifiers”? • • • Tags/Modifiers: radio buttons GUI Configuration Term info: add, back & forward GUI for Ontology Browsing • • • • UVic’s Jambalaya DAG view Relationship views Parents/kids, level limits More aspirations… • Pheno XML reader • “Worn paths” ZFIN integration ZFIN aspirations • • • • • Make webby JavaScript/AJAX interface collaboration ZFIN data adapter Seamless & generic Fish evolutionists (cToL) FlyBase aspirations • Data adapter that talks to FB app proforma • Genotype maker • Genetic interactions • Seamless & generic integration • NLP - infer phenotypes from literature • Dump to OBD (zf & fb) via pheno-xml DEMO… Download • Webstart (0.5): http://toy.lbl.gov:9010/phenote/phenote.html • Sourceforge Obo sourceforge http://sourceforge.net/projects/obo subversion for phenote sub project • 0.6 release soon Acknowledgement • BBOP: Suzanna Lewis, Chris Mungall, Sima Misra, Nicole Washington, ShengQiang Shu, Seth John DayRichter, Nomi Harris • ZFIN: Monte Westerfield, Melissa Haendel, Erik Segerdell, Sierra Taylor, Judy Sprague,Leyla Bayraktaroglu… • FlyBase: Rachel Drysdale, Gillian Milburn, Michael Ashburner, George Gkoutos, David Sutherland… • University of Victoria: Chris Callendar, Margaret-Anne Storey, Sean Falconer