Genetic Testing 4: Current Applications and Future Directions Flashcards
What is Next-generation sequencing (NGS)?
A variety of technologies for rapid sequencing of large segments of DNA, up to and including entire genomes. Same as massively parallel sequencing.
What is Whole-genome sequencing (WGS)?
Determination of the sequence of most of the DNA content of an individual. Some content will be missed.
What is Whole-exome sequencing (WES)?
The exome is the 1% of the genome coding for proteins. Sequencing coding sequences and adjacent regions will identify most clinically significant mutations and is more cost effective than WGS. Clinically, we do this.
What is expression profiling?
An array-based technology that assesses RNA levels. Established expression patterns (profiles) associated with specified outcome measures.
Interpretation is based on differences in gene function, irrespective of underlying genetic mutations.
What is a companion diagnostic?
An instrument which provides information that is essential for the safe and effective use of a corresponding drug or biological product. The test helps a health care professional determine whether a particular therapeutic product’s benefits to patients will outweigh any potential serious side effects or risks.
