Genotype-phenotype correlation--promiscuity in the era of next-generation sequencing.

TitleGenotype-phenotype correlation--promiscuity in the era of next-generation sequencing.
Publication TypeJournal Article
Year of Publication2014
AuthorsLu, JT, Campeau, PM, Lee, BH
JournalN Engl J Med
Volume371
Issue7
Pagination593-6
Date Published2014 Aug 14
ISSN1533-4406
KeywordsExome, Genetic Predisposition to Disease, Genetic Testing, Genome-Wide Association Study, Genotype, Genotyping Techniques, High-Throughput Nucleotide Sequencing, Humans, Mutation, Phenotype, Polymorphism, Genetic
Abstract

Newly cost-effective next-generation sequencing has led to an explosion of discoveries of novel genetic mutations that reveal the rampant "promiscuity" of genotype-phenotype relationships. Such discoveries should ultimately revolutionize clinical care.

DOI10.1056/NEJMp1400788
Alternate JournalN. Engl. J. Med.
PubMed ID25119605