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!"# $%& ’() *+ ,-. /012 34 !"# $%&’( )*&’ +,’(- . /0123456 High Throughput Genotyping for Genomic Cohort Study Woong-Yang Park Department of Biochemistry and Human Genome Research Institute, Seoul National University College of Medicine Human Genome Project (HGP) could unveil the secrets of human being by a long script of genetic codes, which enabled us to get access to mine the cause of diseases more efficiently. Two wheels for HGP, bioinformatics and high throughput technology are essential techniques for the genomic medicine. While microarray platforms are still evolving, we can screen more than 500,000 genotypes at once. Even we can sequence the whole genome of an organism within a day. Because the future medicne will focus on the genetic susceptibility of individuals, we need to find genetic variations of each person by efficient genotyping methods. J Prev Med Public Health 2007;40(2):102-107 Key words : Genotype, Sequence analysis, DNA, Microarray analysis, Single nucleotide polymorphism !"#$%& ’()* ’+,-+))./ 012 J Prev Med Public Health 2007;40(2):102-107 7 458 9:;<=> ’?@ABCDEFFGHIJKHEJFFHEJJFHELMNOP QRS T@U VWX YZ[ \Z]^ _ !"#D$%a bP5 4cd Eefgh 2, _ FEHKJFHeEJLh ij _ FEHKJJHJMIJh kHlmno _ pqrmstuvwx[my[tsN !" 2001z /0{|}P~) * <8 /0 X Q b) + 3U &X 23 123 QU$ 12 { . 123U &X Q { * daU & ) ™$ Q 8 ? 7 ¡ . 7¢ £/ &@¥ 12 3 ™$ ?/ /5ƒ§) 12 ¤ '7 “«¡ { ‹ Q ›fi flO, –²¤OP &@¥ 12 3 ‡OP X & · 4 57 ¶R¡ . •a•/b/1 2¤OP ‚/ . „/bU ” ¡1 X»/U &X 123 · 458 <) …‰ ¿7 •` •a•/b 23 ´X ˆC7`¡ Q . !" $%& ’()* +, /0) # ˜ Q 8 ¯˘/ /5ƒ§ ˙8 ¨/U{ ˚¶ $P ¸ ˝) ˛ˇ* 3-4¿ z 2>— a ˆS /0) 12^ ™$ U /X¡ Q . , /0) Rd* +< ˜8 ˝¤ /* 12¤ /OP ˚ Q . g g ¿OP8 7 ˚ X ˝¤/ /* < /0) 123TU »XS 12¤ // 4g ™U )” …UÆX˛ATU. ª`$ 12¤ /7 g8 /5ƒ§ ˙8 ¨/0) +<) 7 ˙8 9 : L) Ø/U &”$8 7 ™$ ) U )” ¡ Q . /0 9:U &X 12¤ / 7” ´X ™$ / 2001z S /0{|}P~) 7ŒP º¤ OP . 72U8 'X 9: ¶ ² ” 12^ P ¡, 9:* ;S æ47 8 ˆC/ 6P ¶R˚ . 7ıX ¯˘OP 1,500¨) 9 12^ Q O, 7U &X ^ OMIM * £/ DBU <˚ O, P monogenic diseaseU &X Q . g¿ 7ıX ¯˘OP 12^ ´”$8 12^g›¢ landmark ‹ Q 8 genetic marker l. 2001z /0{| }P~8 9 12^ P ´” ø g lX Q§ ‰ œfl. ß fü8 X 12^g› ‰œOP 12^ ˙8 ! " #{ Q ›fi X Y7. ø füP 8 &@¥ 12^ ™$ ? { X Y7. /0 123 23 ™ $ $<¤OP ´X &@ ¥ ˘) ¨* , 7ıX Q 8 DNA chip* £/ %¡& ˘7 { . /0) #/ 9 Q) 7 ˜ Q . ¨/7 $P ¸ Y( ) 9U &X Q7 ¸ Y7. 7 8 *$ +X ,¢ £7 12¤ /U )” ˜ Q O, 12¤ //0) 12^ ™$) 7) ƒ- OP ˜ Q . ª`$ /5ƒ§* ¨/) ™$ ./ ¨/) !"

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Page 1: High Throughput Genotyping for Genomic Cohort Study · 2014-08-07 · High Throughput Genotyping for Genomic Cohort Study Woong-Yang Park Department of Biochemistry and Human Genome

!"# $%& '() *+ ,-. /012 34!"#

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High Throughput Genotyping for Genomic Cohort Study

Woong-Yang Park

Department of Biochemistry and Human Genome Research Institute, Seoul National University College of Medicine

Human Genome Project (HGP) could unveil the secrets ofhuman being by a long script of genetic codes, whichenabled us to get access to mine the cause of diseasesmore efficiently. Two wheels for HGP, bioinformatics andhigh throughput technology are essential techniques for thegenomic medicine. While microarray platforms are stillevolving, we can screen more than 500,000 genotypes atonce. Even we can sequence the whole genome of anorganism within a day. Because the future medicne will

focus on the genetic susceptibility of individuals, we needto find genetic variations of each person by eff icientgenotyping methods.

J Prev Med Public Health 2007;40(2):102-107

Key words : Genotype, Sequence analys is, DNA,Microarray analysis, Single nucleot idepolymorphism

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Microtiter Plates

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Platforms Example(s)

Good for a few markersPCR prior to genotyping

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Genotyping directly on genomic DNAHighly multiplexedReducced costs

Low

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Characteristics Throughput

Page 3: High Throughput Genotyping for Genomic Cohort Study · 2014-08-07 · High Throughput Genotyping for Genomic Cohort Study Woong-Yang Park Department of Biochemistry and Human Genome

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