Human Whole Exome Sequencing
Kev Pabcuam Zoo
● Targeted Protein Coding Region: los ntawm kev ntes thiab ua raws cov protein coding cheeb tsam, hWES yog siv los nthuav tawm cov kev sib txawv ntsig txog cov qauv protein;
● High Accuracy: nrog qhov sib sib zog nqus qhov tob, hWES tswj xyuas cov kev sib txawv thiab tsis tshua muaj qhov sib txawv nrog zaus qis dua 1%;
● Tus Nqi Zoo: hWES yields kwv yees li 85% ntawm tib neeg cov kab mob hloov los ntawm 1% ntawm tib neeg genome;
● Tsib nruj QC cov txheej txheem npog tag nrho cov txheej txheem nrog Q30> 85% lav.
Qauv Specifications
| Platform
| Lub tsev qiv ntawv
| Exon Capture Strategy
| Pom zoo Sequence Strategy
|
|
Illumina NovaSeq Platform
| PEB 150 | Agilent SureSelect Tib Neeg Txhua Tus Exon V6 IDT xGen Exome Hyb Vaj Huam Sib Luag V2 | 5gb ib 10 Gb |
Cov Qauv Xav Tau
| Hom qauv
| Tus nqi(Qubit®)
| Ntim
| Nco ntsoov
| Purity (NanoDrop ™) |
|
Genomic DNA
| ≥ 300 ng | ≥ 15 μL | ≥ 20 ng / μL | OD 260/280 = 1.8-2.0 tsis muaj degradation, tsis muaj paug
|
Pom zoo Sequencing qhov tob
Rau Mendelian kab mob / cov kab mob tsis tshua muaj: ua kom muaj txiaj ntsig zoo tshaj 50 ×
Rau cov qog nqaij hlav: qhov ua tau zoo sib luag qhov tob tshaj 100 ×
Bioinformatics
Kev Pabcuam Ua Haujlwm Flow
Qauv xa tuaj
DNA rho tawm
Kev tsim kho tsev qiv ntawv
Sequencing
Cov ntaub ntawv tsom xam
Kev xa cov ntaub ntawv
Kev pab cuam tom qab muag
1.Txoj kev txheeb cais
Table 1 Statistics of map result
Table 2 Statistics ntawm exome capture
2.Variation Detection
Daim duab 1 Statistics ntawm SNV thiab InDel
3. Kev soj ntsuam Advanced
Daim duab 2 Circos zaj duab xis ntawm Genome-wide teeb meem SNV thiab InDel
Table 3 Kev tshuaj ntsuam xyuas cov noob kab mob
