Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

April 2018 
Journal: Journal of Visualized Experiments
Lead Author: Allison A Dilliott

All Authors: Allison A. Dilliott, Sali M.K. Farhan, Mahdi Ghani, Christine Sato, Eric Liang, Ming Zhang, Adam D. McIntyre, Henian Cao, Lemuel Racacho, John F. Robinson , Michael J. Strong, Mario Masellis, Dennis E. Bulman, Ekaterina Rogaeva, Anthony Lang, Carmela Tartaglia, Elizabeth Finger, Lorne Zinman, John Turnbull, Morris Freedman, Rick Swartz, Sandra E. Black, Robert A. Hegele

Next-generation sequencing (NGS) is quickly changing how to study the genetic causes of certain diseases. Specifically, targeted NGS is able to focus investigations to specific gene regions based on the particular disease being studied. This publication and accompanying video explain the methods used by the ONDRI genomics platform to sequence the DNA of participants using the targeted NGS tool, ONDRISeq.