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  5. SSC Intro to NGS Bioinformatics Course

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Jeffrey E Barrick

Scott Patrick Hunicke-Smith

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Aug 17, 2012

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  • Introduction to variant calling (SAMtools) (SPHS - expand to diploid, cover GATK pipeline; annovar seqanswer)
  • Visualize mapped data at UCSC genome browser
  • Calling variants in diploid genomes
  • Variant calling with GATK
  • Annotating variants (SPHS/DA)
  • Download presentation on Advanced Genome Variant Calling Barrick_AdvancedGenomeVariantCalling_2012.pdf

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  • Mapped read data evaluation (SAMtools) (SPHS)
  • Calling variants in diploid genomes
  • Variant calling with GATK
  • Genome variation in mixed samples (FreeBayes, deepSNV)
  • Identifying structural variants (SVDetect)
  • Practical advice - short read re-sequencing data
  • SRA toolkit, more UCSC Genome Browser

...

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