Slide 1 High Throughput Sequencing Xiaole Shirley Liu STAT115, STAT215, BIO298, BIST520 Slide 2 First Generation Sanger Sequencing: sequencing and detection 2 different steps:…

Slide 1 Whole Exome Sequencing for Variant Discovery and Prioritisation First, a recap. What have we learned? NGS platforms – short and long reads What the data looks like…

Genome & Exome Sequencing Read Mapping Xiaole Shirley Liu STAT115, STAT215, BIO298, BIST520 Whole Genome Sequencing Usually need 30-50X coverage (~ 3 lanes of 100bp PE…

Genome & Exome Sequencing Read Mapping Xiaole Shirley Liu STAT115, STAT215, BIO298, BIST520 Whole Genome Sequencing Usually need 30-50X coverage (~ 3 lanes of 100bp PE…

Slide 1 Whole Exome Sequencing for Variant Discovery and Prioritisation First, a recap. What have we learned? NGS platforms – short and long reads What the data looks like…

Slide 1 Whole Exome Sequencing for Variant Discovery and Prioritisation 2013: ~ 800 papers 2014: ~ 1200 papers Forero DA, 2012 Exomes: Publication Trends Total: 925 (Oct…