Sequence a Genome Flashcards
1
Q
Number of permutations
A
4^n
n = #of bases
2
Q
Number of sites
- Bacterial
- Human
A
8 x 10^6
6 x 10^9 —– ds
3
Q
Unique Sequence Length
A
number of permutations > number of sites
4
Q
Information Theory
A
each letter represented by 2 bits of info A = 00 G = 01 C = 10 T = 11
5
Q
Number of bits
A
2n
6
Q
Specific Base/Sequence
A
l > l(min)
l = 2n l(min) = log2N
7
Q
Sanger
A
- fluorescent tag identifies terminal base
8
Q
Illumina
A
- sequence by synthesis
9
Q
Pacific Biosciences
A
- nucleotide with fluorescent label
10
Q
Nanopore
A
- drag ssDNA/ssRNA through pore
- disruption in current
- long reads
11
Q
Contig
A
- sequence align with an overlap of 3 or more
12
Q
Coverage
- Gaps
A
of bases/genome length = m
Proportion that will be zero
e^-m
13
Q
Genome Variation
A
Homozygous = 1 change Heterozygous = 1+ change Insertion = gap in reference genome
