전 게놈 관련 분석으로 배우는 유전 통계학 R users conference in Korea 2014
1. 전 게놈 관련 분석으로 배우는 !
유전 통계학
양 우성!
(wyang@stagen.co.jp)!
StaGen Co., Ltd!
유전통계분석사업부
2. My Medical Choice
http://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html?_r=1&
“My doctors estimated that I had an 87
percent risk of breast cancer and a 50
percent risk of ovarian cancer, although the
risk is different in the case of each woman.
Only a fraction of breast cancers result
from an inherited gene mutation. Those
with a defect in BRCA1 have a 65
percent risk of getting it, on average”.
- ANGELINA JOLIE
3. “Genetics is the science of
heredity and variation in
living organisms.”
Wikipedia (http://en.wikipedia.org/wiki/Genetics)
9. 다형성의 종류
Polymorphism
• SNP (Single-nucleotide polymorphism)"
• STRP (short tandem repeat polymorphism, Microsatellite)"
• VNTR(variable number of tandem repeat)"
• Insertion / Deletion"
• CNV (Copy number variation)
45. )1()(
)(
paf
pAf
−=
=
Hardy-Weinberg 평형법칙
Law of Hardy-Weinberg Equilibrium
Genotype
계
AA Aa aa
41 38 21 100
Allele
계
A a
120 80 200
Allele
계
A a
0.6 0.4 1
Genotype
계
AA Aa aa
0.41 0.38 0.21 1
2
2
)1()(
)1(2)(
)(
paaf
ppAaf
pAAf
−=
−=
=
if then
적합도 검정 유의확률 = 0.037