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		¼¿ïÀÇ´ë Á¤º¸ÀÇÇнÇ, ½Ã½ºÅÛ ¹ÙÀÌ¿À Á¤º¸ÀÇÇÐ ¿¬±¸¼¾ÅÍ (SBI-NCRC) 
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´ëÇÑÀÇ·áÁ¤º¸ÇÐȸ, Çѱ¹»ý¹°Á¤º¸½Ã½ºÅÛ»ý¹°ÇÐȸ  
            Á¦5Â÷ Genome Data Analysis
WorkshopÀ» °³ÃÖÇϸç 
            
                
                    
                        
                            
                                
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                                         ¾È³çÇϽʴϱî?  
                                        Genome Data Analysis ¿÷¼¥ÀÌ ±× ´Ù¼¸ ¹ø °¿¡ Á¢¾îµì´Ï´Ù. ¿ì¸®µµ ´Ü¼øÇÑ °Á ½Ã¸®Áî º¸´Ù ½ÇÁ¦ÀûÀ¸·Î ½ÇÇà°¡´ÉÇÑ Äڵ带 Áß½ÉÀ¸·Î ½Ç½À, finger exercise¸¦ ÇÒ ¼ö ÀÖ´Â ÇÁ·Î±×·¥À» ¸¸µé¾îº¸ÀÚ´Â ¹Ù·¥À¸·Î ½ÃÀÛÇÑÁöµµ 3³â¿¡ µÇ¾î°©´Ï´Ù. ±×°£ º¸³»Áֽмº¿ø¿¡ ±íÀÌ °¨»çµå¸³´Ï´Ù. 
                                        Genome Data´Â ³ª³¯ÀÌ ´Ã¾î°©´Ï´Ù. 1000 Genome Project°¡ ±× Çϳª°í, TCGA (The Cancer Genome Atlas)°¡ ´Ù¸¥ÇϳªÀÔ´Ï´Ù. ±× ¿Ü¿¡µµ ´Ù¾çÇÑ »ç¾÷À» ÅëÇØ Genome Data°¡ ³Î¸® °ø°³µÇ¾î, ÀÌÁ¦´Â "À¯Àüü ¿¬±¸ÀÇ ¹ÎÁÖÈ ½Ã´ë" °¡ ¸¸°³Çß½À´Ï´Ù. Àú´Â ÇÐȸ µî¿¡¼ °ø°ø¿¬È÷, ±×¸®°í ¿ë°¨ÇÏ°Ô "¾ÕÀ¸·Î 10³â Èĸé, ¾ÏÀÌ ¸¸¼ºÁúÈ¯È µÉ °ÍÀÔ´Ï´Ù"¶ó°í À̾߱âÇϰï ÇÕ´Ï´Ù. ÇãȲµÈ À̾߱Ⱑ ¾Æ´Ï¶ó°í »ý°¢ÇÕ´Ï´Ù. ¾ÏÀº ±Ùº»ÀûÀ¸·Î DNAÀÇ ÁúȯÀ̶ó°í ¹Þ¾Æµé¿©Áý´Ï´Ù. ´« ºÎ½Å ±â¼ú¹ßÀüÀ¸·Î DNAÀÇ ºñ¹ÐÀÌ µå·¯³ª°í ÀÖ½À´Ï´Ù. ´Ù¾çÇÑ Áø´Ü-Ä¡·á Àü·«ÀÌ ¹ßÀüÇϰí ÀÖ°í, ¸ÓÁö ¾Ê¾Æ »ó´ç ºÎºÐÀÇ ¾ÏÁ¾Àº, Áö±Ýó·³ ±Þ¼º ÁúȯÀÌ ¾Æ´Ñ ¸¸¼ºÁúȯÀÇ Çϳª·Î ÀÚ¸®¸Å±èÇÒ °ÍÀÓÀ» ¹Ï¾î ÀǽÉÄ¡ ¾Ê½À´Ï´Ù.
  
                                        ¸¹Àº ºÐµéÀÌ ¡°¸ÂÃãÀÇÇС±À» À̾߱â ÇÕ´Ï´Ù. ¸ÂÃãÀÇÇп¡ ´ëÇÑ Á¦ Á¤ÀÇ´Â °³°³ÀÎ º°·Î ´Ù¸¥ ´Ù¾çÇÑ µ¥ÀÌÅÍ¿¡ ±â¹ÝÇØ¼ °³Àκ°·Î Æ¯ÈµÈ ÀÇÇÐÀû Àü·«À» Àû¿ëÇÏ´Â ºÐ¾ßÀÔ´Ï´Ù. ¹Ù ·Î ÀÓ»ó µ¥ÀÌÅÍ¿Í À¯Àüü µ¥ÀÌÅÍ¿¡ ±â¹ÝÇÑ µ¥ÀÌÅÍ ÀÇÇÐÀÌÁö¿ä. ±× ¾î´À ¶§º¸´Ùµµ Genomic Data¿¡ ´ëÇÑ ¿Ã¹Ù¸¥ ÀÌÇØ°¡ Áß¿äÇÑ ½Ã´ë°¡ µÇ¾ú½À´Ï´Ù. ¿¬±¸ÀÚµéÀÇ ½ÇÁúÀû ¹®Á¦Çذῡ µµ¿òÀÌ µÇ±â À§Çؼ, ¼¿ïÀÇ´ë Á¤º¸ÀÇÇнǰú ¼¿ï´ë ½Ã½ºÅÛ ¹ÙÀÌ¿À Á¤º¸ÀÇÇÐ ±¹°¡Çٽɿ¬±¸¼¾ÅÍ¿¡¼´Â 2013³âµµ ÇÏ°è ¹æÇÐÀ» ¸Â¾Æ Ãʺ¸ÀÚµµ Á¢±ÙÇÒ ¼ö ÀÖ´Â ½Ç¿ëÀûÀÎ À¯Àüü µ¥ÀÌÅÍ ºÐ¼®ÀÇ Àü¹ÝÀûÀÎ ±âÃÊÁö½ÄÀ» ¿¬½ÀÇϰí, ¿¬±¸ »Ó ¾Æ´Ï¶ó ¸ÂÃãÀÇ·á ¹× »ê¾÷¿¡ ÀÀ¿ë°¡´ÉÇÑ ³»¿ëÀ¸·Î GDA (Genome Data Analysis) ¿÷¼¥À» °³¼³Çß½À´Ï´Ù. º» ¿÷¼¥À» ÅëÇØ ½Ç¿ëÀûÀÎ À¯Àüü Á¤º¸ ºÐ¼®ÀÇ ¿ª·®À» °ÈÇÏ´Â ±âȸ°¡ µÇ½Ã±â¸¦ ±â´ëÇÏ¸ç ¸¹Àº °ü½É°ú Âü¿©¸¦ ºÎʵ右´Ï´Ù.
 
                                        2013³â 6¿ù, ¼¿ï´ë ½Ã½ºÅÛ ¹ÙÀÌ¿À Á¤º¸ÀÇÇÐ ¿¬±¸¼¾ÅÍÀå  ±è ÁÖ ÇÑ 
¡¡ 
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                                               Á¦1Â÷ GDA Workshop: 2011³â 8¿ù 22ÀÏ~26ÀÏ, ¼¿ïÀÇ´ë 
                                
                                    
                                    
                                             Á¦2Â÷ GDA Workshop: 2012³â 2¿ù 20ÀÏ~24ÀÏ, ¼¿ïÀÇ´ë 
  Á¦2Â÷ ¿÷¼¥¿¡¼´Â ´ÙÀ½°ú °°Àº »õ·Î¿î ½Ç½À¸ðµâ 3°³°¡ Ãß°¡ µÇ¾ú´Ù.     (1) micro-RNA µ¥ÀÌÅÍ ºÐ¼®  
    (2) °³ÀÎÀ¯Àüü ÇØ¼®: Personal Genome Interpretation  
    (3) ¾ÏÀ¯Àüü/Èñ±ÍÁúȯÀ¯Àüü µ¥ÀÌÅÍ ºÐ¼® 
                                             
					Á¦3Â÷ GDA Workshop: 2012³â 8¿ù 20ÀÏ~24ÀÏ, ¼¿ïÀÇ´ë 
   Á¦ 3Â÷ ¿÷¼¥¿¡¼´Â ´ÙÀ½°ú °°Àº 2°³ÀÇ ½Ç½À¸ðµâÀÌ Ãß°¡µÇ¾ú´Ù.     (1) Family-based ¿¢¼Ø½ÃÄö½Ì ºÐ¼®    (2) TCGA (The Cancer Genome Atlas) µ¥ÀÌÅÍ ºÐ¼®  
                                              Á¦4Â÷ GDA Workshop: 2013³â 2¿ù 18ÀÏ~22ÀÏ, ¼¿ïÀÇ´ë     4Â÷ ¿÷¼¥¿¡¼´Â ´ÙÀ½°ú °°Àº 2°³ÀÇ ½Ç½À¸ðµâÀÌ Ãß°¡µÇ¾ú´Ù.     (1) eQTL µ¥ÀÌÅÍ ºÐ¼®    (2) PheWAS & EWAS µ¥ÀÌÅÍ ºÐ¼® 
	
	  º»5Â÷ ¿÷¼¥¿¡¼´Â ´ÙÀ½°ú °°Àº 3°³ÀÇ ½Ç½À¸ðµâÀÌ Ãß°¡µÉ ¿¹Á¤ÀÌ´Ù.  
		   
			 (1) 
				½ÃÄö½º ·¹º§ Àü»çü ºÐ¼®: Isoforms, Alternative Splicing, RNA-editing, and Fusion Gene     (2) 
	°³ÀÎÀ¯Àüü ÇØ¼®À» À§ÇÑ Áö½Ä/µ¥ÀÌÅͱâ¹Ý ÀÚ¿ø ¼Ò°³¿Í À¯ÀüÀû À§Çè ¿¹Ãø ºÐ¼® 
	
	    (3) 
	Post-GWAS: EMR µ¥ÀÌÅÍ¿Í Áúº´ ¿¬°ü ºÐ¼®  
	
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								½Ç½À¼ "À¯Àüü µ¥ÀÌÅÍ ºÐ¼®" Ãâ°£
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                                         °ÁÂÀÏÁ¤Àº ÁÖÃÖÃøÀÇ »çÁ¤¿¡ µû¶ó º¯°æµÉ ¼ö ÀÖ½À´Ï´Ù. 
                                
                                    
                                        | 
                                             DAY 1: Advanced Microarray Data Analysis 
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                                        | 
                                                         8¿ù 26ÀÏ(¿ù) 
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                                             ½Ã°£ 
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                                               ÁÖ  Á¦ 
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                                             ° »ç 
                                         | 
                                     
                                    
                                        | 
                                             8:30 ~ 9:30 
                                         | 
                                        µî·Ï ¹× »çÀü ÇÁ·Î±×·¥ ¼³Ä¡ | 
                                     
                                    
                                        | 
                                             9:30 ~ 9:50 
                                         | 
                                        Advanced Microarray Data Analysis | 
                                        
                                             ±èÁÖÇÑ ±³¼ö 
                                         | 
                                     
                                    
                                        | 
                                             9:50 ~ 10:40 
                                         | 
                                        
                                             Gene Expression Analysis 
- Normalization  
- Differential Expression Analysis 
- Classification Analysis 
                                         | 
                                        
                                             ±èÁÖÇÑ ±³¼ö 
(¼¿ïÀÇ´ë) 
                                         | 
                                     
                                    
                                        | 
                                             10:50 ~ 12:10 
                                         | 
                                        
                                             ½Ç ½À I: Bioconductor 
           t-test, SAM, ANOVA, FDR 
                                         | 
                                        
                                             À̼ö¿¬s, ¹é¼ö¿¬ 
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                                        | 
                                             12:10 ~ 13:10 
                                         | 
                                        
                                               Áß  ½Ä 
                                         | 
                                     
                                    
                                        | 
                                             13:10 ~ 14:00 
                                         | 
                                        
                                             Classification and Clustering 
- Classification Analysis 
- Clustering Analysis 
- Evaluation and Validation 
 
                                         | 
                                        
                                            
                                             ¼Õ°æ¾Æ ±³¼ö 
(¾ÆÁÖ´ë) 
                                         | 
                                     
                                    
                                        | 
                                             14:10 ~ 15:30 
                                         | 
                                        
                                             ½Ç ½À II: KNN, SOM, HC, PCA  
           LDA, DTs, SVMs 
                                         | 
                                        
                                             À̼ö¿¬, ¼Èñ¿ø 
                                         | 
                                     
                                    
                                        | 
                                             15:40 ~ 16:30 
                                         | 
                                        
                                             Gene-set Approaches & Prognostic Subgroup Prediction 
- Gene Ontology & Pathway Analysis  
- Gene Set Enrichment Analysis 
- Prognostic Subgroup Prediction 
 
                                         | 
                                        
                                             Á¶¼º¹ü ¹Ú»ç 
(±¹¸³º¸°Ç¿¬±¸¿ø) 
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                                             16:40 ~ 18:00 
                                         | 
                                        
                                             ½Ç ½À III: Gene Set Enrichment Analysis  
            Cox-PH, Log Rank Test  
            David, ArrayXPath 
                                         | 
                                        
                                             ±è±âÅÂ, ¹é¼ö¿¬ 
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                                        | 
                                             DAY 2: Next Generation Sequencing & Personal Genome Data Analysis 
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                                                        8¿ù 27ÀÏ(È) 
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                                             ½Ã°£ 
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                                               ÁÖ  Á¦ 
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                                             ° »ç 
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                                             8:30 ~ 9:30 
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                                        µî·Ï ¹× »çÀü ÇÁ·Î±×·¥ ¼³Ä¡ | 
                                     
                                    
                                        | 
                                             9:30 ~ 9:50 
                                         | 
                                        
                                             Next Generation Sequencing & Personal Genome Data Analysis 
                                         | 
                                        
                                              ±èÁÖÇÑ ±³¼ö 
                                         | 
                                     
                                    
                                        | 
                                             9:50 ~ 10:40 
                                         | 
                                        
                                             NGS Platforms and Applications 
- Current NGS Platforms 
- NGS Data Formats 
- NGS Data Analysis Technologies 
- NGS Applications 
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											±èÁöÈÆ ¹Ú»ç 
(¸¶Å©·ÎÁ¨) 
                                         | 
                                     
                                    
                                        | 
                                             10:50 ~ 12:10 
                                         | 
                                        
                                             ½Ç ½À I: NGS Data Processing 
          NGS Data Format Converting 
          NGS Visualization Tools 
                                         | 
                                        
                                             ¼Èñ¿ø, ÀÓÀçÇö 
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                                        | 
                                             12:10 ~ 13:10 
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                                               Áß  ½Ä 
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                                             13:10 ~ 14:00 
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                                             NGS Data Analysis 
- Sequence Alignment Algorithms 
- Whole Genome and Exome Data Analysis 
- Variation Detection and Reference Genome 
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                                             À̼ö¿¬ ¹Ú»ç 
(¼¿ïÀÇ´ë) 					
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                                             14:10 ~ 15:30 
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                                             ½Ç ½À II: Exome Sequencing Alignment 
           SNP and Indel Identification 
           Variation Filtering 
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                                             ¹ÚÂùÈñ, ¼Èñ¿ø 
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                                             15:40 ~ 16:30 
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                                             Personal Genome Interpretation  
- Phenotype Annotation 
- Genetic Risk Prediction  
- Healthcare Application 
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                                             ±èÁÖÇÑ ±³¼ö 
(¼¿ïÀÇ´ë)  
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                                             16:40 ~ 18:00 
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                                             ½Ç ½À III: SNP Prioritization 
             Genetic Risk Prediction methods 
             Resources for Personal Genome Interpretation 
            (dbGAP, PheGeni, SNPedia, PhenoDB) 
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                                             À̼ö¿¬s, ¹é¼ö¿¬ 
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                                        | 
                                             DAY 3: RNA-seq Data Analysis 
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                                                        8¿ù 28ÀÏ(¼ö) 
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                                             ½Ã°£ 
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                                               ÁÖ  Á¦ 
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                                             ° »ç 
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                                             8:30 ~ 9:30 
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                                        µî·Ï ¹× »çÀü ÇÁ·Î±×·¥ ¼³Ä¡ | 
                                     
                                    
                                        | 
                                             9:30 ~ 9:50 
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                                             RNA-seq Data Analysis 
                                         | 
                                        
                                              ±èÁÖÇÑ ±³¼ö 
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                                        | 
                                             9:50 ~ 10:40 
                                         | 
                                        
                                             RNA-Seq Expression Profile Analysis 
- Read Alignment Methods 
- Expression Quantification Strategy 
- Differentially Expressed Genes Identification 
- Expression Profile Analysis 
                                         | 
                                        
                                             Á¤Á¦±Õ ¹Ú»ç 
(»ï¼ºÀ¯Àüü¿¬±¸¼Ò) 
                                         | 
                                     
                                    
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                                             10:50 ~ 12:10 
                                         | 
                                        
                                             ½Ç ½À I: Read alignment with TopHat,  
          Expression Quantification with Cufflinks 
          RNA-Seq Gene Expression Analysis 
                                         | 
                                        
                                             ÀÓÀçÇö, ¼Èñ¿ø 
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                                        | 
                                             12:10 ~ 13:10 
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                                               Áß  ½Ä 
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                                             13:10 ~ 14:00 
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                                             Sequence-level Transcriptome Analysis  
- Novel Transcript Discovery 
- Alternative Splicing Identification  
- RNA-editing Analysis 
- New/Fusion Gene Identification 
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                                             14:10 ~ 15:30 
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                                             ½Ç ½À II: Alternative Splicing Identification   
           RNA Editing Site Annotation 
            Fusion Gene Identification 
                                         | 
                                        
                                             À̼ö¿¬s, ÀÓÀçÇö 
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                                             15:40 ~ 16:30 
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											Non-coding RNAs in RNA-Seq Data 
- miRNA Expression Profiling 
- miRNA Target Gene Prediction  
- Non-coding RNA Characterization
 
 
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											³²Áø¿ì ±³¼ö 
											(ÇѾç´ë) 
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                                             16:40 ~ 18:00 
                                         | 
                                        
                                             ½Ç ½À III: miRNA Sequencing Data Process 
            miRNA Expression Profiling 
            non-coding RNA Resources 
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                                             ¼Èñ¿ø, ÀÓ¿µ±Õ 
                                         | 
                                     
                                 
                                  
                                
                                    
                                        | 
                                             DAY 4: Exome Sequencing and Cancer Genome Bioinformatics  
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                                                        8¿ù 29ÀÏ(¸ñ) 
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                                             ½Ã°£ 
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                                               ÁÖ  Á¦ 
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                                             ° »ç 
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                                             8:30 ~ 9:30 
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                                        µî·Ï ¹× »çÀü ÇÁ·Î±×·¥ ¼³Ä¡ | 
                                     
                                    
                                        | 
                                             9:30 ~ 9:50 
                                         | 
                                        
                                             Exome Sequencing and Cancer Genome Bioinformatics 
                                         | 
                                        
                                              ±èÁÖÇÑ ±³¼ö 
                                         | 
                                     
                                    
                                        | 
                                             9:50 ~ 10:40 
                                         | 
                                        
                                             Exome Sequencing and Rare Disease  
- Exome Sequencing Data 
- Exome Sequencing of Rare Disease    
- Variant Analysis and Annotation 
 
                                         | 
                                        
                                             ±è³²½Å ¹Ú»ç 
(»ý¸í°øÇבּ¸¿øKOBIC) 
                                         | 
                                     
                                    
                                        | 
                                             10:50 ~ 12:10 
                                         | 
                                        
                                             ½Ç ½À I: Trio-Exome-Sequencing Data Analysis 
           Known Variant Filtering 
           Detection of Disease-causing Variations  
           (SIFT, PolyPhen2, VAAST) 
           Disease Gene Prioritization 
                                         | 
                                        
                                             ¼Èñ¿ø, ±è±âÅ 
                                         | 
                                     
                                    
                                        | 
                                             12:10 ~ 13:10 
                                         | 
                                        
                                               Áß  ½Ä 
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                                        | 
                                             13:10 ~ 14:00 
                                         | 
                                        
                                             Cancer Genome Bioinformatics  
- Cancer Genome Analysis   
- Identifying Genomic Rearrangement   
- Gene Fusion Analysis   
- Survival Analysis
 
                                         | 
                                        
                                             
											¼Û¿µ¼ö ±³¼ö 
											(ÇѾçÀÇ´ë) 
                                         | 
                                     
                                    
                                        | 
                                             14:10 ~ 15:30 
                                         | 
                                        
                                             ½Ç ½À II: TCGA Data Analysis   
          Cancer Genome Analysis (Multiple Plotting, 
          Network Analysis, Visualization, Mutation, 
          Methylation, Survival Analysis) 
          Cancer Panel, OncoMap 
                                         | 
                                        
                                             
											
											ÀÓÀçÇö, °íÀμ® 
                                         | 
                                     
                                    
                                        | 
                                             15:40 ~ 16:30 
                                         | 
                                        
                                             Copy Number and Genomic Rearrangement 
- CNA Identification in Cancer Genome  
- Copy Number Data Processing 
- Genomic Rearrangement 
 
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                                             ±èºÀÁ¶ ¹Ú»ç 
(±¹¸³º¸°Ç¿¬±¸¿ø) 
                                         | 
                                     
                                    
                                        | 
                                             16:40 ~ 18:00 
                                         | 
                                        
                                             ½Ç ½À III: Cancer Genomic Rearrangement 
           Identification of CNV Regions 
            CNV Database 
                                         | 
                                        
                                             
											ÀÓÀçÇö, ÀÓ¿µ±Õ 
                                         | 
                                     
                                 
                                  
                                
                                    
                                        | 
                                             DAY 5: GWAS and Post-GWAS, eQTL, PheWAS and EWAS Data Analysis 
                                         | 
                                     
                                    
                                        | 
                                                        8¿ù 30ÀÏ(±Ý) 
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                                             ½Ã°£ 
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                                               ÁÖ  Á¦ 
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                                             ° »ç 
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                                        | 
                                             8:30 ~ 9:30 
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                                        µî·Ï ¹× »çÀü ÇÁ·Î±×·¥ ¼³Ä¡ | 
                                     
                                    
                                        | 
                                             9:30 ~ 9:50 
                                         | 
                                        
                                             GWAS and Post-GWAS, eQTL, PheWAS and EWAS Data Analysis 
                                         | 
                                        
                                              ±èÁÖÇÑ ±³¼ö 
                                         | 
                                     
                                    
                                        | 
                                             9:50 ~ 10:40 
                                         | 
                                        
                                             SNPs Data Analysis and Genome Wide Association Study 
- Linkage Disequilibrium Analysis 
- Genotype & Haplotype 
- Rare Variant Analysis 
- Regression-based Testing 
                                         | 
                                        
                                             ÀÌ俵 ±³¼ö 
(¼þ½Ç´ë) 
                                         | 
                                     
                                    
                                        | 
                                             10:50 ~ 12:10 
                                         | 
                                        
                                             ½Ç ½À I: Haplotype Estimation, LD Blocking  
           GWAS Catalog 
           GWAS test with PLINK software 
                                         | 
                                        
                                             ÀÓ¿µ±Õ, ¹ÚÂùÈñ 
                                         | 
                                     
                                    
                                        | 
                                             12:10 ~ 13:10 
                                         | 
                                        
                                               Áß  ½Ä 
                                         | 
                                     
                                    
                                        | 
                                             13:10 ~ 14:00 
                                         | 
                                        
                                             Post-GWAS and eQTL Data Analysis 
- Post-GWAS: Connection to GWAS 
- Runs of Homozygosity (ROH) 
- Cis- and trans-expression QTL 
- eQTL Hotspots 
                                         | 
                                        
                                             ¹ÚÀÌ¿µ ¹Ú»ç 
(¼¿ïÀÇ´ë) 
                                         | 
                                     
                                    
                                        | 
                                             14:10 ~ 15:30 
                                         | 
                                        
                                             ½Ç ½À II: Idenfity eQTL hotspots 
            eQTL Resources 
                                         | 
                                        
                                             ÀÓÀçÇö, ±è±âÅ 
                                         | 
                                     
                                    
                                        | 
                                             15:40 ~ 16:30 
                                         | 
                                        
                                             PheWAS, EWAS and Electronic Medical Records Data Analysis 
- EMR and beyond GWAS 
- Phenome-Wide Association Study (PheWAS)  
- Environment-Wide Association Study (EWAS) 
 
                                         | 
                                        
                                             ±èÁÖÇÑ ±³¼ö 
(¼¿ïÀÇ´ë) 
                                         | 
                                     
                                    
                                        | 
                                             16:40 ~ 18:00 
                                         | 
                                        
                                             ½Ç ½À III: EMR Data Structure and Extraction 
            SNPs and Disease Associations from EMR 
           EMR Based Phe-WAS   
                                         | 
                                        
                                             °íÀμ®, À̼öÇö 
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