Sequencing the Human Exome: Approaches, Methodologies, and Challenges

(event.on24.com)

Sequence capture technology reduces the genome complexity by enriching a selective portion of the genome, targeting anywhere from 100 kb to 30 Mb of the human genome. When coupled to next generation sequencing, this technology readily facilitates the resequencing of candidate genes and regions previously identified from genomewide association studies. The ultimate goal is to identify possible genetic variants that can be further tested and validated as potentially disease-causing mutations. These technologies are particularly applicable to Mendelian disease studies, detection of genetic variants in cancer models, and population studies. In this webinar, the panelists will present their own data, defining the performance criteria necessary for using sequence capture in combination with next generation sequencing, such as percent of target sequence detected, uniformity of coverage, and depth of coverage for variants.