Genetics Flashcards
what are the 2 types of sequencing you can do with NGS
whole genome or whole exome
what is the advantage to whole exome sequencing
cheaper and covers most of what we can interpret
what are the advantages of NGS
look at more genes and faster than conventional sequencing
when filtering sequence data, what variations do you want to keep
variations that are
- in the right genes
- expected to affect gene
- not listed as polymorphisms
a genetic mutation can be one of 3 things - what are they
causative mutation
polymorphism
variant of unknown significance
an intronic variant has a __ likelihood of effect
low
a change to the end of an exon (1 or 2 bases into the intron) is likely to cause
splicing error
an exonic variant has potential to be what (4)
no effect
cause frameshift
create a stop
change the AA sequence
what comes first: translation or transcription
transcription
if you get lots of difficult to sort variants what can you use to help determine the causative mutation
phenotype of patient - tells you which genes are important to the patient
SMAD4:p.Arg.157.IIe
means what
in the gene SMAD4
the arginine in position 157 of the peptide sequence has been mutated to an isoleucine
SMAD4:c.471A>T
means what
the adenine in position 471 in the cDNA sequence has been mutated to a thymine
SMAD4:p.Cys162Ter
means what
cysteine in position 162 has mutated to a stop codon
what is the notation of a stop codon
Ter or *
what is penetrance
the likelihood of having a disease if you have a gene mutation
