Article
Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis.
Current protocols in human genetics - 18 Oct 2013
Worthey Elizabeth A
Abstract excerpt
Over the last several years, next-generation sequencing (NGS) has transformed genomic research through substantial advances in technology and reduction in the cost of sequencing, and also in the systems required for analysis of these large volumes of data. This technology is now being used as a standard molecular diagnostic test under particular circumstances in some clinical settings. The advances in sequencing...
Topics
- Exome
- Genetic Predisposition to Disease
- Genetic Testing
- Genetic Variation
- Genome, Human
- Genomics
- High-Throughput Nucleotide Sequencing
- Humans
- Sequence Analysis, DNA