New England Journal of Medicine
October 4, 2018 Vol. 379 No. 14
Frontiers in Medicine: Next-Generation Sequencing to Diagnose Suspected Genetic Disorders
David R. Adams, M.D., Ph.D., and Christine M. Eng, M.D.
The technologies and chemistries underlying next-generation sequencing of DNA are evolving rapidly. This review describes the three main approaches to obtaining a genetic diagnosis through next-generation sequencing, their advantages, and their limitations.