Annotation
The notation for substitution
What is X>Y?
The notation for silent (no protein change)
What is Xxx123= ?
The role of the assembly in annotation
What is a reference?
The recommended library to find a gene to annotate
What is PubMed Central?
The way introns are referred to, positionally
What is c.X +- Y?
The notation for a missense variant
What is Xxx123Yyy?
The notation for transcripts
What is Transcript:x.Y
T/F: others can see highlights you create when annotating
False
The notation for deletion
What is X_Ydel? (including Y)
The notation for a nonsense mutation
Xxx123*
The location where the build used in a report can typically be found
What is the Methods Section?
The number of tags to be used for an annotation
What is all relevant?
The notation for insertion
What is insXYZ?
T/F: both the protein variant and corresponding nucleotide variant are necessary for a protein change
True
T/F: coding DNA changes are specific to transcripts
True
The way to write tags
What is CamelCase?
The direction nucleotides are ordered in notation
What is 5' to 3'?
The notation for frameshift mutations
What is Xxx123Yyyfs*Z?
The most common build used by clinical labs (when instructional videos were created)
What is GRCh37 and hg19?