Genomics

Question 1

genomic medicine is a new, structured approach to __

Answer 1

discover, diagnosis and management

Question 2

genomic medicine features next- generation __

Answer 2

sequencing and analysis

Question 3

symptoms can correspond with known syndrome, but molecular testing can indicate a __

Answer 3

different diagnosis

Question 4

gene sequencing in normal and abnormal development

Answer 4

can be prenatally to give info about potential birth defects and limited set of diseases

Question 4

sanger PCR sequencing is

Answer 4

gene by gene, exon by exon

Question 4

multiplexing sequences can accommodate __

Answer 4

small panels

Question 5

multiplexing cons

Answer 5

-time consuming
-limited genes/ regions

Question 5

what is the gold standard for genetic testing?

Answer 5

sanger PCR

Question 6

importance of sanger human genome project

Answer 6

-public and private groups
-finished early and under budget
-complete human genome sequence produced

Question 7

sanger sequencing is used for __ gene sequencing

Answer 7

SINGLE!

Question 7

next generation sequencing is focused on sequencing __

Answer 7

more than one strand at a time

Question 7

genetic variation factors

Answer 7

-size
-location
-impact on a codon
-impact on the protein
-impact on expression

Question 8

human genetic variation is __

Answer 8

0.5% (16 mil. base pairs)

Question 8

single nucleotide variants are common and account for __ of all DNA changes

Answer 8

75%

Question 8

single nucleotide variants are found in 1 in every __ nucloetides

Answer 8

100- 300

Question 9

insertions/ deletions occur __ as often as single nucleotide variants

Answer 9

1/10

Question 9

insertions/ deletions 90% are __ nucleotides in length

Answer 9

1-10

Question 9

what is the least frequent DNA change but large so affects the most nucleotides?

Answer 9

CNVs (copy number variation, duplication)

Question 9

overview of panel sequencing

Answer 9

RNA/ DNA isolation-> library-> panel-> enrichment-> sequencing

Question 10

overview of genome sequencing

Answer 10

RNA/ DNA isolation-> library-> genome-> sequencing

Question 11

each DNA fragment has

Answer 11

-sequencing primer
-adapters
-barcode

Question 12

enrichment is the process of selecting specific regions of interest for sequencing using __

Answer 12

capture probes

Question 13

enrichment cost and time considerations

Answer 13

-pooling samples to be mixed before
-allows for more sequencing of targeted regions
-decreases costs and time per sample

Question 14

overview of sequencing using fluorscence

Answer 14

-use sequencing by synthesis
-fluorescent nucleotides added one at a time
-laser excites fluorescence and read

Question 15

bioinformatics used to analyze the differences between __

Answer 15

individuals DNA and the human reference genome

Question 16

bioinformatics variant detection process

Answer 16

1. sequence alignment
2. candidate variant identification
3. consensus calling
4. characterization