![Page 1: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/1.jpg)
DNA Short Tandem Repeats
Organism
![Page 2: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/2.jpg)
DNA Short Tandem Repeats
Organ
![Page 3: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/3.jpg)
DNA Short Tandem Repeats
Cell
![Page 4: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/4.jpg)
Weights
• 1kg – a bag of sugar
• 1g – paper clip
• 1mg (milligram) 0.001g – brain of a bee
• 1µg (microgram) 0.000001g weight of a
bacterium
• 1ng (nanogram) 0.000000001g a millionth
of a grain of salt - recommended input to
profiling
• 1pg (picogram) 0.000000000001g 6pg of
DNA from each cell
![Page 5: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/5.jpg)
Cells
• We lose about 30,000-40,000 skin cells an
hour
• In a year, you lose about 8lbs of cells
• “Where do they all go? The dust that collects
on your tables, TV, windowsills and on those
picture frames that are so hard to get clean is
made mostly from dead human skin cells. In
other words, your house is filled with former
bits of yourself.”
• About 10,000 will fit on the head of a pin
• Current DNA technology can profile one cell
![Page 6: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/6.jpg)
DNA Short Tandem Repeats
Nucleus
![Page 7: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/7.jpg)
DNA Short Tandem Repeats
Chromosomes
![Page 8: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/8.jpg)
DNA Short Tandem Repeats
DNA
![Page 9: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/9.jpg)
DNA Short Tandem Repeats
Locus
![Page 10: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/10.jpg)
DNA Short Tandem Repeats
STR
![Page 11: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/11.jpg)
DNA Short Tandem Repeats
![Page 12: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/12.jpg)
DNA Short Tandem Repeats
Allele
![Page 13: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/13.jpg)
DNA Short Tandem Repeats
Allele
5
3
![Page 14: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/14.jpg)
DNA Short Tandem Repeats
Locus is important
FGA 3
D3 3
![Page 15: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/15.jpg)
DNA Short Tandem Repeats
A D3 vWA D16 D2 D8 D21 D18 D19 THO1 X Y 17 18 18 11 12 18 24 12 14 29 13 17 14 9 9.3
DNA profile
Locus
Allele Heterozygote
Homozygote
![Page 16: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/16.jpg)
The process
• Extraction
• Quantitation
• Amplification
• Separation
• Interpretation
• Evaluation
![Page 17: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/17.jpg)
Amplification = Multiplication
![Page 18: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/18.jpg)
Raw data
![Page 19: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/19.jpg)
Single source profile
![Page 20: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/20.jpg)
One DNA component
from mother,
another from father
Area of DNA tested
Names of DNA
components
![Page 21: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/21.jpg)
Why statistics?
• DNA is NOT unique
• We look at only a few areas
• Need to know what the probability
of finding the profile by chance is
(i.e. to give an idea of how many
other people may have been the
source of the profile)
![Page 22: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/22.jpg)
Statistical estimates
= 0.1
1 in a billion
1 in 10 1 in 111 1 in 20
1 in 22,200
x x
1 in 100 1 in 14 1 in 81
1 in 113,400
x x
1 in 116 1 in 17 1 in 16
1 in 31,552
x x
![Page 23: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/23.jpg)
Probability
• Black hair
• Blue eyes
• Beard
• Gold tooth
0.6
0.25
0.01
0.001
Probability= 0.6 x 0.25 x 0.01 x 0.001
= 0.0000015
= 1 in 666,666
![Page 24: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/24.jpg)
Random Match Probability
R B
f 0.1 0.1
RB = 0.1 x 0.1 = 0.02 = 2 in 100 x 2 = 1 in 50
![Page 25: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/25.jpg)
Mixtures
![Page 26: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/26.jpg)
Mixtures
![Page 27: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/27.jpg)
?
Mixtures
![Page 28: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/28.jpg)
?
Mixtures
![Page 29: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/29.jpg)
?
Mixtures
![Page 30: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/30.jpg)
?
Mixtures
![Page 31: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/31.jpg)
Mixtures
RB
RY
RG
BY
BG
GY
= 6 ‘suspect’ profiles that
‘cannot be excluded’ as
contributors
![Page 32: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/32.jpg)
How many suspects?
• With 6 possibilities at each of 15 areas
• There are 6x6x6x6x6x6x6x6x6x6x6x6x6x6x6=
• More than 60 million suspect profiles
![Page 33: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/33.jpg)
Alleles observed on ‘outside’
D8 D21 D7 CSF D3 THO1 D13 D16 D2 D19 vWA TPOX D18 D5 FGA
13 31.2
8
10
11
10
11
12
16
17
18
6 9
9.3
11
12
11
12
13
14
17
19
25
13
14
14
15
16
8
11
12
14
15
16
12
13
21
22
24
25
13
29
31.2
32.2
8
10
11
12
11
12
16
18
6 7
8
9.3
11
12
13
9 12
13
14
17
25
13
14
14
16
18
8
11
14
16
12
13
20
21
24
![Page 34: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/34.jpg)
D8 D21 D7 CSF D3 THO1 D13 D16 D2 D19 vWA TPOX D18 D5 FGA
13
29
31.2
32.2
8
10
11
12
10
11
12
16
17
18
6
7
8
9
9.3
11
12
13
9
11
12
13
14
17
19
25
13
14
14
15
16
18
8
11 12
14
15
16
12
13
20
21
22
24 25
Alleles observed on ‘outside’
![Page 35: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/35.jpg)
No. of alleles at each locus
D8 D21 D7 CSF D3 THO1 D13 D16 D2 D19 vWA TPOX D18 D5 FGA
13
29
31.2
32.2
8
10
11
12
10
11
12
16
17
18
6
7
8
9
9.3
11
12
13
9
11
12
13
14
17
19
25
13
14
14
15
16
18
8
11 12
14
15
16
12
13
20
21
22
24 25
1 3 4 3 3 5 3 5 3 2 4 3 3 2 5
![Page 36: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/36.jpg)
No of ‘suspect’ profiles
D8 D21 D7 CSF D3 THO1 D13 D16 D2 D19 vWA TPOX D18 D5 FGA
13
29
31.2
32.2
8
10
11
12
10
11
12
16
17
18
6
7
8
9
9.3
11
12
13
9
11
12
13
14
17
19
25
13
14
14
15
16
18
8
11 12
14
15
16
12
13
20
21
22
24 25
1 3 4 3 3 5 3 5 3 2 4 3 3 2 5
1 3 6 3 3 10 3 10 3 1 6 3 3 1 10
![Page 37: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/37.jpg)
D8 D21 D7 CSF D3 THO1 D13 D16 D2 D19 vWA TPOX D18 D5 FGA
13
29
31.2
32.2
8
10
11
12
10
11
12
16
17
18
6
7
8
9
9.3
11
12
13
9
11
12
13
14
17
19
25
13
14
14
15
16
18
8
11 12
14
15
16
12
13
20
21
22
24 25
1 3 4 3 3 5 3 5 3 2 4 3 3 2 5
1 x3 x6 x3 x3 x10 x3 x10 x3 x1 x6 x3 x3 x1 x10
No of ‘suspect’ profiles
![Page 38: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/38.jpg)
D8 D21 D7 CSF D3 THO1 D13 D16 D2 D19 vWA TPOX D18 D5 FGA
13
29
31.2
32.2
8
10
11
12
10
11
12
16
17
18
6
7
8
9
9.3
11
12
13
9
11
12
13
14
17
19
25
13
14
14
15
16
18
8
11 12
14
15
16
12
13
20
21
22
24 25
1 3 4 3 3 5 3 5 3 2 4 3 3 2 5
1 x3 x6 x3 x3 x10 x3 x10 x3 x1 x6 x3 x3 x1 x10
= 78,732,000 ‘suspect profiles
No of ‘suspect’ profiles
![Page 39: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/39.jpg)
D8
![Page 40: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/40.jpg)
D8
![Page 41: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/41.jpg)
D8
![Page 42: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/42.jpg)
Adding ‘new’ alleles at D8 D8 D21 D7 CSF D3 THO1 D13 D16 D2 D19 vWA TPOX D18 D5 FGA
9
11
13
14
29
31.2
32.2
8
10
11
12
10
11
12
16
17
18
6
7
8
9
9.3
11
12
13
9
11
12
13
14
17
19
25
13
14
14
15
16
18
8
11 12
14
15
16
12
13
20
21
22
24 25
4 3 4 3 3 5 3 5 3 2 4 3 3 2 5
6 3 6 3 3 10 3 10 3 1 6 3 3 1 10
472,392,000 (470m) ‘suspect’ profiles
![Page 43: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/43.jpg)
D21
![Page 44: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/44.jpg)
D21 ‘zoom’
![Page 45: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/45.jpg)
D21
![Page 46: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/46.jpg)
D8 D21 D7 CSF D3 THO1 D13 D16 D2 D19 vWA TPOX D18 D5 FGA
9
11
13
14
28
29
30
31.2
32.2
8
10
11
12
10
11
12
16
17
18
6
7
8
9
9.3
11
12
13
9
11
12
13
14
17
19
25
13
14
14
15
16
18
8
11 12
14
15
16
12
13
20
21
22
24 25
4 5 4 3 3 5 3 5 3 2 4 3 3 2 5
D8 D21 D7 CSF D3 THO1 D13 D16 D2 D19 vWA TPOX D18 D5 FGA
19
11
13
14
28
29
30
31.2
32.2
8
10
11
12
10
11
12
16
17
18
6
7
8
9
9.3
11
12
13
9
11
12
13
14
17
19
25
13
14
14
15
16
18
8
11 12
14
15
16
12
13
20
21
22
24 25
4 5 4 3 3 5 3 5 3 2 4 3 3 2 5
6 10 6 3 3 10 3 10 3 1 6 3 3 1 10
1,574,640,000 (1.5 billion) ‘suspect profiles
Adding ‘new’ alleles at D21
![Page 47: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/47.jpg)
D8 D21 CSF D3 THO1 D13 D19 TPOX D18 D5
IN
13
14 31.2 10 16 6 12
13
14 11 13 20 OUT 13 29
31.2
32.2
10
11
12
16
17
18
6
7
8
9
9.3
11
12
13
13
14
8
11
12
14
15
16
20
21
22
24
25
Alleles on inside & outside
![Page 48: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/48.jpg)
The Likelihood Ratio = LR
Probability of this evidence if the DNA came from Mr X + unknown
Probability of this evidence if it came from 2 unknowns
LR = Probability of E given Hpros
Probability of E given Hdef
“… times more likely”
e.g. LR = 1/10
1/100 =
0.1
0.001 = 10
![Page 49: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/49.jpg)
LR = 1 (1/frequency)
For single source profiles
=frequency
e.g. 1/(1/10) = 10
![Page 50: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/50.jpg)
Mixtures
![Page 51: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/51.jpg)
R B Y G
f 0.25 0.25 0.25 0.25
X p(Hp) p(Hd) LR
RB 0.125 0.0469 2.67
RY 0.125 0.0469 2.67
RG 0.125 0.0469 2.67
BY 0.125 0.0469 2.67
BG 0.125 0.0469 2.67
YG 0.125 0.0469 2.67
“Mr X + unknown rather than two unknowns”
![Page 52: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/52.jpg)
R B Y G
f 0.1 0.1 0.25 0.25
Mr X p(Hp) p(Hd) LR
RB 0.125 0.0075 16.67
RY 0.05 0.0075 6.67
RG 0.05 0.0075 6.67
BY 0.05 0.0075 6.67
BG 0.05 0.0075 6.67
YG 0.02 0.0075 2.67
“Mr X + unknown rather than two unknowns”
![Page 53: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/53.jpg)
R B Y G
f 0.1 0.1 0.25 0.25
Mr X p(Hp) p(Hd) LR
RB 0.125 0.0075 16.67
RY 0.05 0.0075 6.67
RG 0.05 0.0075 6.67
BY 0.05 0.0075 6.67
BG 0.05 0.0075 6.67
YG 0.02 0.0075 2.67
“Mr X + unknown rather than two unknowns”
![Page 54: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/54.jpg)
RG 33.33
“Mr X + unknown rather than two unknowns”
![Page 55: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/55.jpg)
R B Y G
f 0.01 0.1 0.2 0.5
Mr X p(Hp) p(Hd) LR
RB 0.2 0.0012 166.67
RY 0.1 0.0012 83.33
RG 0.04 0.0012 33.33
BY 0.01 0.0012 8.33
BG 0.004 0.0012 3.33
YG 0.002 0.0012 1.67
“Mr X + unknown rather than two unknowns”
![Page 56: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/56.jpg)
R B Y G
f 0.01 0.1 0.2 0.5
Mr X p(Hp) p(Hd) LR
RB 0.2 0.0012 166.67
RY 0.1 0.0012 83.33
RG 0.04 0.0012 33.33
BY 0.01 0.0012 8.33
BG 0.004 0.0012 3.33
YG 0.002 0.0012 1.67
“Mr X + unknown rather than two unknowns”
![Page 57: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/57.jpg)
More complicated mixture
![Page 58: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/58.jpg)
Second area
![Page 59: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/59.jpg)
Second area
![Page 60: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/60.jpg)
A
B
A
C
D
D
B
C
Second area (locus)
A B C D
![Page 61: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/61.jpg)
AB
AC
AD
BC
BD
CD
= 6 ‘suspect’ profiles that
‘cannot be excluded’ as
contributors
Second area only
![Page 62: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/62.jpg)
AB AC AD BC BD CD
RB
RY
RG
BY
BG
YG
444
![Page 63: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/63.jpg)
AB AC AD BC BD CD
RB
RY
RG
BY
BG
YG
444
889
444
![Page 64: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/64.jpg)
AB AC AD BC BD CD
RB
RY
RG
BY
BG
YG
1,778
889
1,778
444
889
444
“X + unknown rather than two unknowns”
![Page 65: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/65.jpg)
AB AC AD BC BD CD
RB
RY
RG
BY
BG
44,444
22,222
44,444
11,111
22,222
11,111
YG
1,778
889
1,778
444
889
444
“X + unknown rather than two unknowns”
![Page 66: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/66.jpg)
AB AC AD BC BD CD
RB
88,889
44,444
88,889
22,222
44,444
22,222
RY
RG
BY
BG
44,444
22,222
44,444
11,111
22,222
11,111
YG
1,778
889
1,778
444
889
444
“X + unknown rather than two unknowns”
![Page 67: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/67.jpg)
AB AC AD BC BD CD
RB
88,889
44,444
88,889
22,222
44,444
22,222
RY
3,556
1,778
3,556
889
1,778
889
RG
8,889
4,444
8,889
2,222
4,444
2,222
BY
17,778
8,889
17,778
4,444
8,889
4,444
BG
44,444
22,222
44,444
11,111
22,222
11,111
YG
1,778
889
1,778
444
889
444
“X + unknown rather than two unknowns”
![Page 68: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/68.jpg)
Stochastic variation
Examples so far assume allele
calls are certain, but low template
samples cause new problems
because of stochastic variation.
•Stochastic variation is random
variation
•Failure to reproduce results
•Leads to uncertainty
![Page 69: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/69.jpg)
![Page 70: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/70.jpg)
![Page 71: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/71.jpg)
![Page 72: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/72.jpg)
![Page 73: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/73.jpg)
![Page 74: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/74.jpg)
The crimestain
![Page 75: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/75.jpg)
Standard technique
Enough sample so that no dropout is expected and peak height represents
amount of DNA present (i.e. not variable)
![Page 76: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/76.jpg)
![Page 77: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/77.jpg)
![Page 78: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/78.jpg)
![Page 79: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/79.jpg)
![Page 80: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/80.jpg)
![Page 81: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/81.jpg)
![Page 82: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/82.jpg)
![Page 83: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/83.jpg)
Low Template Sample
• Stochastic variation is random
variation
• Failure to reproduce results
• Leads to uncertainty
![Page 84: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/84.jpg)
![Page 85: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/85.jpg)
![Page 86: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/86.jpg)
![Page 87: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/87.jpg)
![Page 88: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/88.jpg)
![Page 89: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/89.jpg)
![Page 90: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/90.jpg)
![Page 91: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/91.jpg)
A B
C
D
E
F
G H
I
![Page 92: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/92.jpg)
![Page 93: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/93.jpg)
![Page 94: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/94.jpg)
![Page 95: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/95.jpg)
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A B
C D
E F
![Page 99: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/99.jpg)
Dropout or dropin?
D8 D21 D7 CSF D3 THO1 D13 D16 D2 D19 vWA TPOX D18 D5 FGA
13 31.2
8
10
11
10
11
12
16
17
18
6
9
9.3
11
12
11
12
13
14
17
19
25
13
14
14
15
16
8
11
12
14
15
16
12
13
21
22
24
25
13
29
31.2
32.2
8
10
11
12
11
12
16
18
6
7
8
9.3
11
12
13
9
12
13
14
17
25
13
14
14
16
18
8
11
14
16
12
13
20
21
24
![Page 100: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/100.jpg)
Probability of dropout and dropin
p(D)
Is the probability that an allele is
really there but you have not
detected it.
p(C)
Is the probability that an allele you
have detected is not from the
crimestain – it is contamination
![Page 101: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/101.jpg)
FST statistic
• FST is the programme used to
calculate the LR in this case
• Statistic depends on
– Probability of dropout which is
• Dependent usually on the weight of DNA
• Which is unknown for the minor
contributors
– And the validation data do not support
any p(D) for any weight of DNA
– The LR being correct
![Page 102: Organism - WordPress.com · 22,222 RY RG BY BG 44,444 22,222 44,444 11,111 22,222 11,111 YG 1,778 889 1,778 444 889 444 “X + unknown rather than two unknowns”](https://reader033.vdocuments.site/reader033/viewer/2022052717/5f0423017e708231d40c7e98/html5/thumbnails/102.jpg)
Low Template Sample
• Identified by variable results, NOT
the amount of DNA
• Causes problems in;
– Identifying ‘true’ sample alleles
– Using peak height information
• Inclusion/exclusion of people
• Number of contributors