Bioinformatics Flashcards

0
Q

Aspects of sequence analysis

A
  • gene and promoter prediction
  • RNA secondary structure and gene expression
  • protein sequence analysis
  • restriction mapping for cloning and primer design for PCR
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1
Q

Purposes of DNA sequencing in bioinformatics

A
  • able to convert between sequence formats
  • percentage nucleotide composition
  • restriction analysis (looking for restriction sites)
  • primer design
  • finding coding and non-coding features
  • removal of vector sequence
  • gene prediction
  • getting the final protein
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2
Q

Aspects of bioinformatics and cloning

A
  • retrieving the sequence of interest
  • identifying restriction enzyme sites
  • engineering new sites using PCR
  • sequencing an insert
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3
Q

What is an SNP?

A
  • a DNA sequence variation occurring commonly within a population in which a single nucleotide in the genome differs between members of a species
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4
Q

What does fst measure?

A

The similarity between populations due to genetic structure

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5
Q

Implications of genetic diversity

A
  • could affect gene expression if in a TF site
  • could affect splicing
  • could affect protein abundance or function
  • potential disease phenotype
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6
Q

Uses of a functional interaction network

A
  • function prediction

- network analysis for important proteins

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7
Q

Applications of network/systems biology

A
  • finding important genes
  • viewing connections between genes and the effect of knocking one out
  • overlaying high-throughput data
  • GWAS analysis
  • integrating data from different sources
  • multi-disciplinary research
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8
Q

Types of signatures for functional regions

A
  • position weight matrix
  • protein signatures
  • pattern
  • matrix/profile
  • hidden markov model
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9
Q

Features of a genomic context

A
  • which strand it is encoded on
  • Exon/intron structure
  • promoter region
  • other features
  • genes up and downstream
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10
Q

Models of evolution

A
  • nucleotide substitution
  • amino acid substitution
  • demographic
  • molecular clock
  • phyllo geographic
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11
Q

What does GWAS stand for?

A

Genome wide association studies

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12
Q

Workflow of experiment for a pharmacogenetic gene

A
  • GWAS studies and data king to identify candidate genes
  • functional analysis and validation of candidate gens
  • drug id and population studies
  • point of care and personalized medicine
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13
Q

Properties to assess in a systems nework

A
  • hubs
  • degree
  • betweenness
  • closeness
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14
Q

What is a gene signature?

A

A group of genes whose combined expression pattern is uniquely characteristic of a biological phenotype

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15
Q

Why does BLAST work?

A
  • similar sequences have similar functions and are evolutionarily related
16
Q

BLASTn

A

Nucleotides

17
Q

BLASTp

A

Amino acids

18
Q

BLASTx

A

Six frames of nucleotides vs amino acids

19
Q

tBLASTn

A

Amino acids vs six frames of nucleotides

20
Q

tBLASTx

A

6 frame nucleotides vs amino acids vs 6 frame nucleotides into amino acids

21
Q

MegaBLAST

A

Most commonly used because it is fast, but less sensitive

22
Q

PSI BLAST

A

Slow but takes into account regions that are more evolutionarily conserved

23
Q

Define E

A

The value for match equal to be the probability of getting that match by chance

24
Q

Why would you use multiple alignment vs pair wise

A

It reveals more subtle similarities

Evolutionary relationships become apparent when examining more that 3 sequences in alignment

25
Q

Features of ecological/demographic histories of populations

A
  • gene flow
  • population size changes
  • natural selection
  • migration
26
Q

Pair wise alignment methods

A
  • ClustalW
  • MUSCLE
  • MAUVE
27
Q

Balancing selection

A

Some useful/conditionally useful mutations never reach fixation

28
Q

What does UPGMA stand for?

A

Unweighted pair group method with arithmetic mean

29
Q

What does BLAST stand for?

A

Basic local alignment search tool

30
Q

Other methods of finding evolution

A
  • neighbour joining
  • least squares
  • max positioning
  • max likelihood
  • Bayesian MCMC (markov chain Monte Carlo)
31
Q

Mechanisms of recombination

A
  • double stranded break and repair
  • disintegration and repair
  • template switching during reverse transcription
32
Q

Why is recombination important?

A
  • repairing DNA breaks
  • repairing harmful mutations
  • better exploration of sequence space
33
Q

Define sequence space

A

Every possible combo of nucleotides in every length of DNA

34
Q

Problems with recombination

A
  • If parental sequence is too diverged, the sequence specific interaction is compromised
  • high rate of recombination breaks beneficial mutations
  • more sequence space is not necessarily beneficial
35
Q

Process of basic functional analysis of sequences

A
  • collect the sample
  • sequence alignment
  • find conserved regions
  • generate signature
  • run against other sequences
  • functional/context analysis