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Restriction Enzyme Generated Next-Generation Sequencing Libraries And Genetic Risk Modifiers Of Brca1 Mutation Carriers, Bradley Downs
Restriction Enzyme Generated Next-Generation Sequencing Libraries And Genetic Risk Modifiers Of Brca1 Mutation Carriers, Bradley Downs
Theses & Dissertations
Next-generation sequencing (NGS) is a high throughput technique used to sequence large amounts of DNA in a short amount of time. However, a limitation to NGS is that the generated data is in a single consensus sequence without distinguishing between variants on homologous chromosomes. Separating or phasing the variants from the maternal and paternal chromosomes can provide information about the genetic origin of disease and information about how DNA nucleotide alterations interact in cis. This dissertation explores a new technical method of using restriction enzymes during NGS library preparation and its ability to increase the amount of phasing information that …