Next-Generation Sequencing to Diagnose Suspected Genetic Disorders

N Engl J Med. 2018 Oct 4;379(14):1353-1362. doi: 10.1056/NEJMra1711801.

Authors

David R Adams¹, Christine M Eng¹

Affiliation

¹ From the Office of the Clinical Director, National Human Genome Research Institute, and the Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD (D.R.A.); and the Department of Molecular and Human Genetics, Baylor College of Medicine, and Baylor Genetics - both in Houston (C.M.E.).

PMID: 30281996
DOI: 10.1056/NEJMra1711801

No abstract available

Publication types

Review

MeSH terms

Exome Sequencing
Genetic Diseases, Inborn / diagnosis*
Genetic Testing / methods*
Genome, Human
Genotyping Techniques
High-Throughput Nucleotide Sequencing
Humans
Insurance Coverage
Insurance, Health / economics
Sequence Analysis, DNA / methods*