NGS/MPS/WES/WGS Flashcards
Genetic testing can be hypothesis testing or hypothesis ___________
generating
If Fragile X testing is performed more than the pretest probability will ____________
decrease
________ sequencing is a first tier diagnostic test for neurodevelopmental disorders
exome
__________ sequencing is an excellent test for detection of coding region sequence variants, especially de novo and compound heterozygous; as of the last few years, it is also sensitive for CNVs
exome
Detection of mosaicism depends on ______ ______________ (and tissue tested)
read depth
What are four things not detected by exome sequencing?
- Copy neutral structural variants.
- Repetitive DNA regions
- intronic sequences alterations
- DNA methylation
__________ ___________ sequencing is the most sensitive single genetic test (with a few gaps)
whole genome
Whole genome sequencing can be supplemented with 4 other technologies. Name them.
- Transcriptomics.
- Long read sequencing.
- Proteomics.
- Methylomics.
Genetic expertise was once important for test choice but is not invaluable for test _______________
interpretation
A negative result from a more sensitive test has higher _______ and allows you to pursue other diagnostic hypotheses
NPV (negative predictive value)
A ________ is a diagnostic hypothesis that you can choose to follow or not
Variant of unknown significance (VUS)
A protein domain with no known mutations is said to have high ____________ for de novo mutations
constraint
WES/WGS generates a hypothesis for an _________ test
orthogonal
A copy number neutral chromosomal translocation is diagnosable on __________ analysis
chromosome
_______________ rich coding regions can lack the read depth to make accurate calls in exome sequencing (blue coverage), much better with genome (green coverage)
GC
