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Whole genome resequencing

Whole genome resequencing ?

Sequencing ±â¼úÀÌ °íµµ·Î ¹ßÀüÇÔ¿¡ µû¶ó, Àüü genomeÀÌ ¹àÇôÁø Á¾ÀÇ °³¼ö°¡ ±Þ¼Óµµ·Î ´Ã¾î³ª°í ÀÖ½À´Ï´Ù. ÀÌ·¸°Ô Àüü genomeÀÌ ¹àÇôÁø Á¾À» ´ë»óÀ¸·Î ƯÁ¤ °³Ã¼°£ÀÇ º¯À̸¦ ºÐ¼®Çϱâ À§ÇØ whole genome resequencingÀ» ¼öÇàÇÏ°Ô µË´Ï´Ù. Sequencing °á°ú¸¦ ±âÁ¸ÀÇ reference sequence¿Í ºñ±³ÇÏ¿©, ƯÁ¤ °³Ã¼ÀÇ SNP, InDel, SV, CNV µîÀÇ variationÀ» ¹àÇô³¾ ¼ö ÀÖ½À´Ï´Ù. Whole genome resequencingÀÇ °¡Àå Å« È°¿ë ºÐ¾ß´Â variation ¿¬±¸·Î Àνĵǰí ÀÖ½À´Ï´Ù.

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Bioinformatics ºÐ¼® Workflow

Whole genome resequencing - ½ÇÇè ÁøÇà °úÁ¤

Sample requirements

concentration Concentration (ng/§¡) Quality
Genomic DNA > 6§¶ (in general) > 50 OD(260/280)>1.8 is highly recommended
> 30§¶ (high GC bacteria) > 50

Sequencing Strategy

91 ~ 101 PE (paired ends) sequencing

Bioinformatic analysis - contents

contents
1Â÷ ºÐ¼®
(individualÀ϶§)
1. Data filtering (removing adaptors contamination and low-quality reads from raw reads)
2. Alignment and Summary of data production (Based on item 1)
3. SNP calling, annotation and statistics (Based on item 1&2)
2Â÷ ºÐ¼®
(individualÀ϶§)
4. InDel calling, annotation and statistics
5. SV calling, annotation and statistics
6. CNV calling, annotation and statistics
7. Known phenotypic or disease risk variant screen
8. Genetic ancestry analysis >
3Â÷ ºÐ¼®
(populationÀ϶§)
9. Population SNP calling
10. Unbiased population frequency estimation (based on population SNPs)
11. Population InDel calling
12. Haplotype Analysis
13. Demographic Analysis (high-risk)
14. Population structure and Phylogenetics cluster analysis
15. Selection signals (middle-risk, the turnaround time may be changing according to different circumstances)