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

James T Lu; Philippe M Campeau; Brendan H Lee

doi:10.1056/NEJMp1400788

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

N Engl J Med. 2014 Aug 14;371(7):593-6. doi: 10.1056/NEJMp1400788.

Authors

James T Lu¹, Philippe M Campeau, Brendan H Lee

Affiliation

¹ From the Human Genome Sequencing Center and the Department of Structural and Computational Biology and Molecular Biophysics (J.T.L.), and the Department of Molecular and Human Genetics (B.H.L)., Baylor College of Medicine; and the Howard Hughes Medical Institutes (B.H.L.) - both in Houston; and the Medical Genetics Service, Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Montreal (P.M.C.).

PMID: 25119605
DOI: 10.1056/NEJMp1400788

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.

MeSH terms

Exome
Genetic Predisposition to Disease
Genetic Testing / economics
Genetic Testing / methods
Genetic Testing / trends
Genome-Wide Association Study
Genotype*
Genotyping Techniques* / economics
Genotyping Techniques* / trends
High-Throughput Nucleotide Sequencing* / economics
Humans
Mutation
Phenotype*
Polymorphism, Genetic