Portal de Periódicos da CAPES

Next-Generation Sequencing to Diagnose Suspected Genetic Disorders

2018; Massachusetts Medical Society; Volume: 379; Issue: 14 Linguagem: Inglês

10.1056/nejmra1711801

1533-4406

David R. Adams, Christine M. Eng,

Genomic variations and chromosomal abnormalities

Interview with Dr. David Adams on the use of clinical next-generation sequencing to obtain a genetic diagnosis. (06:23)Download 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.