Next-generation sequencing demands next-generation phenotyping.

Abstract excerpt

Next-generation sequencing (NGS) is the most powerful diagnostic tool since the roentgenogram. NGS will facilitate diagnosis on a massive scale, allowing interrogation of all genes in a single assay. It has been suggested that NGS will decrease the need for phenotyping in general and medical geneticists in particular. We argue that NGS will shift focus and approach of phenotyping. We predict that NGS performed...

Topics

• Genetics, Medical
• Genome-Wide Association Study
• High-Throughput Nucleotide Sequencing
• Humans
• Molecular Diagnostic Techniques
• Phenotype
• Translational Research, Biomedical