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Demo: Exploiting the UCSC Genome Browser Stefanie Butland UBC Bioinformatics Centre [email protected] Lab 3.4 1 UCSC Genome Gateway Structure Custom tracks Genome browser Table browser Your sequence BLAT Database Family browser Downloadable files http://genome.ucsc.edu/downloads.html Lab 3.4 2 http://genome.ucsc.edu/cgi-bin/hgGateway Lab 3.4 3 Lab 3.4 4 Lab 3.4 5 Lab 3.4 6 Configure Tracks Lab 3.4 7 Spliced ESTs Lab 3.4 8 Genome Gateway Help/User’s Guide Lab 3.4 9 Worked Examples Genome Browser 1. Glutaminyl-tRNA Synthetase (QARS) gene structure and sequence (see Demo 3.4 notes for guide) 2. BLAT of Factor VIII primers (see Demo 3.4 notes for guide ) Table Browser 3. Locations of simple repeats in QARS Table Browser and Custom Tracks 4. Known genes on chromosome 4 that contain trinucleotide repeats Lab 3.4 10 Table Browser: Tabular output of simple repeats in QARS Lab 3.4 11 Lab 3.4 12 Lab 3.4 13 2 Get all fields 1 Tabular output of simple repeats in QARS Lab 3.4 14 Custom Tracks generated by the Table Browser Research Question: Which known genes in the first 25 Mb of chromosome 4 contain trinucleotide repeats? An answer to this question can be found in the intersection of the Known Genes table with the Simple Repeats table (limited to repeat period = 3) in the region chr4:1-25,000,000 Lab 3.4 15 • Go to the Table Browser and choose the Human assembly from July 2003 Lab 3.4 16 • Choose Browser Tracks - Known Genes, and click Describe table for info on Known Genes content Lab 3.4 17 • for Position, enter ‘chr4:1-25000000’ and click Advanced query… • under Select Output Format for knownGene, choose Custom Track… and scroll down the page Lab 3.4 18 • under (Optional) Intersect Results with Another Table, choose Browser Tracks – Simple Repeats, and click Intersect Results Lab 3.4 19 • under (Optional) Filter simpleRepeat Records by Field Values, select period is = 3 and click Custom Track... Lab 3.4 20 • click Get Custom Track File to view the text output, then go back and click Get Custom Track to view this graphically in the Genome Browser Lab 3.4 21 • click Get Custom Track File to view the text output, then go back and click Get Custom Track to view this graphically in the Genome Browser Lab 3.4 22 • Find a way to zoom in on one of the genes with a repeat and turn the Simple Repeats track on in pack mode to view these Lab 3.4 23 Research Question: Which known genes in the first 25 Mb of chromosome 4 contain trinucleotide repeats? Related questions: • How many genes is this? • Conduct the query in reverse - how many trinucleotide repeats are in known genes in the first 25 Mb of chromosome 4. • Can you explain the difference between the results of these queries? Lab 3.4 24 Data Downloads ... http://genome.ucsc.edu/downloads.html Lab 3.4 25 Example: simpleRepeats table Lab 3.4 26 Other Examples For other examples to work through, see: • “Creating custom annotation tracks” section of the User’s Guide http://genome.ucsc.edu/goldenPath/help/hgTracksHelp.html • Lab 3.4 Table Browser paper, Karolchik et al (2004) NAR 32:D493-D496 27