genomics

Question 1

new, structured approach to disease discovery, diagnosis and management that prominently features next-generation sequencing and analysis

Answer 1

genomic medicine

Question 2

public group consisted of ~20 international labs

2.7 bil under budget

took 13 years for first draft

Answer 2

sanger human genome project

Question 3

human genome:

Answer 3

3.2 billion base pairs
~19,000 genes

human variation 0.5%= 16 million base pairs different

Question 4

genertic variations:

Answer 4

size
location
impact on codon
impact on protein
impact on expression

Question 5

DNA changes:

Answer 5

single nucleotide variants SND= common and account for 75% of all DNA changes

in-del= insertions and deletions

CNVs= large

Question 6

what comes first in hierarchial gene control

Answer 6

coordinate genes

Question 7

what is FALSE about NGS for children

Answer 7

single-gene sequencing

Question 8

what is the purpose of NextGen Sequencing?

Answer 8

permit rapid interrogation of DNA and using parallel sequencing technology

Question 9

Amelogenesis Imperfecta everything except

Answer 9

not routinely screened for in pediatric populations

(everything yes: associated with hypodontia, has varying levels of phenotypes, deals with gnomAD database, amd genes AMELX, AMTN, ENAM)

Question 10

epigenetics:

Answer 10

1.the stresses “dont change the underlying human genome, but they affect gene expression”
2. social factors
3. environmental factors

Question 11

the human genome…

Answer 11

3.2 billion base pairs
can be sequenced in one day
have common polymorphisms

Question 12

DNA changes everything but

Answer 12

alternative splicing

(does change single nucleotide variants, insertions and deletions, aneuploidy)

Question 13

important in embryological development:
1
2
3
4

Answer 13

1. Universal Mechanisms
2. protein across species
3. inductive signaling
4. regional determination

Question 14

ACMG guidelines and secondary findings?
1
2
3
(all of the above answer)

Answer 14

1. giving feedback on random variants that may not be associated with issues
2. primarily cancer and cardiovascular syndromes
3. something about pediatrics

Question 15

purpose of genetic screening in pediatric populations?
a. not helpful for single genes
b. children present incomplete symptoms
c. rare diseases and the presentation in children

Answer 15

a. NOT helpful for single gene

Question 16

what is true about generative morphogenesis

Answer 16

a. impacted by normal variations
b. epigenetics
(all of the above answer)