Module 1 Flashcards
(27 cards)
how can we change genome -based knowledge into health benefits
- Use it to personalize medicine
- Prediction, prevention, personalization and participation
- How genes contribute to health and disease
- Identify predictors of disease susceptibility
- Motivate behavioral changes
Two different approaches used by the two competing consortiums
public consortium vs private
what is the public consortium
interested in the entire genome (introns and exons) and sequences all 3 billion base pairs using BAC
what is the private consortium
Interested in protein coding regions of the genome
Sequence all genes using shotgun sequencing
primary difference between consortiums
- How DNA was fragmented
- How fragmented DNA was assembled
what are BACs and their function
Small circular strands of DNA found in bacteria
Holds more DNA than a typical plasmid
what is a sequence landmark
- Organize all DNA fragments in the human genome
- Need additional info to know where each fragment lies in the genome
- Similar to a postal code
pros to the BAC approach
- Reduced chances of misassembling due to better known location
- Sequencing step is quick, no need to sequence both ends of the DNA
cons to the BAC approach
- Experimentally laborious and takes a lot of time
- Bioinformatically heavy
Pros to the shotgun approach
Overall process is experimentally quicker
cons to the shotgun approach
- Bioinformatically heavy
- Major problems dealing with repeat sequences in DNA
Aneuploidy meaning
abnormal # of chromosomes
Heteromorphism
visible region of a chromosome that varies in size or morphology
microscopic structural variants are
aneuploidy and heteromorphism
small scale variants are
- non coding DNA
- copy number variants and - - segmental duplications
- inversions
- translocations
- SNPs
what is a SNP
a single base pair change
what is an inversion
region of DNA with reverse orientation compared to the rest of the chromosome
what is a translocation
regions of DNA that change position in the genome without changing sequence
Non-coding DNA regulates protein-coding DNA through
- Non-coding functional RNAs
- Promoter and repressor sequences
- Sequence folding in 3-dimensional space
SDs and CNVs direct effect
Influencing gene expression (ex dosage sensitive genes)
SDs and CNVs indirect effect
Causes structural rearrangements within chromosomes
What is the protein that competes with the HIV particle to bind to the CCR5 receptor
CCL3L1
What is the amount of amylase in saliva proportional to
AMY1 copy number
CNVs and SDs are prevalent in the genome because
Of misalignment during homologous and nonhomologous recombination
