H > ¼ºñ½º > Next-Generation Sequencing (NGS) >Whole genome resequencing
Whole genome resequencing
Whole genome resequencing ?
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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) |