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  1. Download and install the Integrative Genome Viewer from the Broad Institute. 
  2. Select "Human hg19" as the reference genome from the top left drop down (you may need to select "more" to have hg19 as an option)
  3. Get some data: File > Load from Server… > 1000 genomes > Alignments > ACB > exome > HG01880
  4. Navigate to the rightmost exons of the GABBR1 gene.
  5. Zoom in until you find some SNPs. (Hint look just to the left of the 2nd exon).
  6. What type of library is this? (Hint: zoom out)
  7. If you knew this was a cancer patient, consider how strongly you would think this may be a potentially causative mutation.
  8. Imagine it was actually in the exon rather than just into the intron... would that make you consider it more?
  9. Load and look at the SNP track: File > Load from server > Annotations > Variants and Repeats > dbSNP 1.3.7
  10. The track may load with the Refseq genes, making it useful to resize that window to view both the gene and the dbSNP information simultaneously.
  11. Consider if this makes you think it more likely or less likely that this is a causative mutation.

 

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Optional Tutorial Exercises ...

 

Expand
titleTo visualize mapped data without calling variants

You will need to index your reference FASTA and convert your SAM output files into sorted and indexed BAM files. The "why?" behind these steps is described more fully in the Variant calling tutorial. If you are in your mapping directory, these commands will perform the necessary steps.

Warning
titleSubmit to the TACC queue or run in an idev shell
Code Block
samtools faidx NC_012967.1.fasta
samtools view -b -S -o bowtie/SRR030257.bam bowtie/SRR030257.sam
samtools sort bowtie/SRR030257.bam bowtie/SRR030257.sorted
samtools index bowtie/SRR030257.sorted.bam

Repeat the last three commands for each SAM output file that you want to visualize in IGV.

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