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PhenCode: Linking Human Mutation and Genome

PhenCode: Linking Human Mutation and Genome. Belinda Giardine Cathy Riemer Ross Hardison Webb Miller Jim Kent PSU and UCSC. Aims of PhenCode. Connect genome data (evolutionary history, function) with phenotype and clinical data

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PhenCode: Linking Human Mutation and Genome

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  1. PhenCode: Linking Human Mutation and Genome Belinda Giardine Cathy Riemer Ross Hardison Webb Miller Jim Kent PSU and UCSC

  2. Aims of PhenCode • Connect genome data (evolutionary history, function) with phenotype and clinical data • Facilitate better understanding of the associations between genotype and phenotype • Generate novel explanations for mechanisms of disease

  3. Connectivity in PhenCode

  4. Current data in PhenCode

  5. LSDBs in the works • RettBASE (Rett syndrome) • dbPEX (Zellweger syndrome, Refsum Disease Infinitile Form, Adrenoleukodystrophy Autosomal Neonatal Form) • LMDp (muscular dystrophy) • BIC (breast cancer)

  6. Recent accomplishments • Added new LSDBs and updated old ones • Documentation is now available from the bx web site • The tools used in mapping the mutations to the genome are available also • Paper in Human Mutation • PhenCode: connecting ENCODE data with mutations and phenotype.

  7. PhenCode example

  8. Detail page at UCSC

  9. Work in progress • Add more Locus Specific Databases • Automation of track updates • Phenotype nomenclature

  10. URLs and Acknowledgements • URLS • genome.ucsc.edu • www.bx.psu.edu • UCSC and PSU • Work was supported by NIH grants HG002238 (WM) and DK65806 (RH), NHGRI grant 1P41HG02371 (WJK)

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