Genomics Flashcards
genomic medicine is a new, structured approach to __
discover, diagnosis and management
genomic medicine features next- generation __
sequencing and analysis
symptoms can correspond with known syndrome, but molecular testing can indicate a __
different diagnosis
gene sequencing in normal and abnormal development
can be prenatally to give info about potential birth defects and limited set of diseases
sanger PCR sequencing is
gene by gene, exon by exon
multiplexing sequences can accommodate __
small panels
multiplexing cons
-time consuming
-limited genes/ regions
what is the gold standard for genetic testing?
sanger PCR
importance of sanger human genome project
-public and private groups
-finished early and under budget
-complete human genome sequence produced
sanger sequencing is used for __ gene sequencing
SINGLE!
next generation sequencing is focused on sequencing __
more than one strand at a time
genetic variation factors
-size
-location
-impact on a codon
-impact on the protein
-impact on expression
human genetic variation is __
0.5% (16 mil. base pairs)
single nucleotide variants are common and account for __ of all DNA changes
75%
single nucleotide variants are found in 1 in every __ nucloetides
100- 300
insertions/ deletions occur __ as often as single nucleotide variants
1/10
insertions/ deletions 90% are __ nucleotides in length
1-10
what is the least frequent DNA change but large so affects the most nucleotides?
CNVs (copy number variation, duplication)
overview of panel sequencing
RNA/ DNA isolation-> library-> panel-> enrichment-> sequencing
overview of genome sequencing
RNA/ DNA isolation-> library-> genome-> sequencing
each DNA fragment has
-sequencing primer
-adapters
-barcode
enrichment is the process of selecting specific regions of interest for sequencing using __
capture probes
enrichment cost and time considerations
-pooling samples to be mixed before
-allows for more sequencing of targeted regions
-decreases costs and time per sample
overview of sequencing using fluorscence
-use sequencing by synthesis
-fluorescent nucleotides added one at a time
-laser excites fluorescence and read
bioinformatics used to analyze the differences between __
individuals DNA and the human reference genome
bioinformatics variant detection process
- sequence alignment
- candidate variant identification
- consensus calling
- characterization
