Internet Databases II Bert Gold, Ph.D., F.A.C.M.G. The Santa Cruz Website • The Golden Path – How Constructed – Reliance upon the NCBI assembly – Additional Wash U. data and data from The SNP Consortium Santa Cruz Continued • • • • • Add a track, annotation Utility of the Browser Demonstrating the use of the Browser Showing the Repeats, annotation Looking at Genes, coding regions and introns • BLAT Polymorphism • STRs • Segmental Duplications • Cytogenetics • Contiguous Gene Syndromes • Deletion by ‘illegitimate recombination’ (non-homologous recombination) More Polymorphism • • • • Mapping Validating The Utility of Spidey Acembly Automated polymorphism scoring software • An excursion away from Internet • Cluster analysis – Threshold – QA/QC – Binning – Outliers • SDS 2.0 and Automated calls Sequencing for Polymorphism Detection • Polyphred Microsatellite Software • • • • • GeneScan Genotyper EXPORT as EXCEL IMPORT as VNTR How ‘Phenotype’ is ‘Genotype’ for Software developers Genome Assembly Programs • • • • • • Phred, Phrap, Consed, Autofinish Polyphred as a spin-off Free: The Staden Package http://www.angis.org.au/Staden/staden_home.html Free: http://www.generunner.com Soren Rasmussen’s DNA Tools: http://www.dnatools.dk • The Wisconsin Package • Lasergene • Sequencher Database Management Programs • Cyrillic http://www.exetersoftware.com/cat/cyrillic.html • Genomica • Finch Server • More Generic – – – – Microsoft ACCESS FoxPro FileMaker MySQL • Industrial Strength – Microsoft SQL – Oracle Linkage analysis Generally • Jurg Ott’s Lab: http://linkage.rockefeller.edu • Daniel Weeks Lab at Pittsburgh: http://www.hgen.pitt.edu/ (and then click through on his name) • Duke University Center for Human Genetics http://www.chg.duke.edu/software/index.html More Linkage Analysis Sites • Genetic Data Analysis Software (Bruce Weir) http://lewis.eeb.uconn.edu/lewishome/software.html Comparative Genomics • HOMOPHILA: HUMAN TO DROSOPHILA DATABASE • http://homophila.sdsc.edu/ • JOINT GENOME INSTITUTE (FUGU HOME) • http://jgi.doe.gov • FRUITFLY GENOME PROJECT HOME • http://www.fruitfly.org Whole Genome Projects • • • • • • • Human (www.nhgri.nih.gov) Drosophila (www.fruitfly.org) Mouse (www.informatics.jax.org) Worm (www.wormbase.org) Yeast (www-genome.stanford.edu) Rice (www.arabadopsis.org) Maize (www.agron.missouri.edu) EBI is responsible for human gene annotation (officially) • Ensembl Project • Hosted at Sanger Center/EBI The Sanger Center itself is at: – www.sanger.ac.uk • Automatic annotation – www.ensembl.org How to automate HTML (HTML Forms) • • • • • • Function calls in HTML PERL JAVA C Applets Other possibilities (Mathematica)