Kutevedzana Kwemunhu Yese Exome
Basa Rinobatsira
● Targeted Protein Coding Region: nekutora uye kurongedza protein coding region, hWES inoshandiswa kuratidza zvakasiyana-siyana zvine chokuita neprotein structure;
● High Accuracy: nehupamhi hwekutevedzana kwakadzika, hWES inobatsira kuonekwa kwezvakasiyana zvakasiyana uye zvisingawanzo siyana zvine mafrequency ari pasi pe1%;
● Mari Inoshanda: hWES inobereka inenge 85% yekuchinja kwechirwere chevanhu kubva ku1% yejenome yevanhu;
● Maitiro mashanu akasimba eQC anovhara maitiro ese neQ30> 85% yakavimbiswa.
Sample Specifications
| Platform
| Library
| Exon Capture Strategy
| Kurudzira Sequencing Strategy
|
|
Illumina NovaSeq Platform
| PE150 | Agilent SureSarudza Munhu Zvese Exon V6 IDT xGen Exome Hyb Panel V2 | 5 Gb 10 Gb |
Mienzaniso Zvinodiwa
| Muenzaniso Type
| Mari(Qubit®)
| Volume
| Concentration
| Kuchena(NanoDrop™) |
|
Genomic DNA
| ≥ 300 ng | ≥ 15 μL | ≥ 20 ng/μL | OD260/280=1.8-2.0 hapana kuderedzwa, hapana kusvibiswa
|
Inokurudzirwa Sequencing Hudzamu
Kune Mendelian kusagadzikana / zvisingawanzo zvirwere: inobudirira kutevedzana kudzika pamusoro pe50 ×
Kumasamples emabundu: kudzika kutevedzana kunoshanda pamusoro pe100 ×
Bioinformatics
Kuyerera Kwebasa Rebasa
Muenzaniso wekutumira
Kutorwa kweDNA
Kuvakwa kweraibhurari
Sequencing
Data analysis
Kuendesa data
Mushure mekutengesa masevhisi
1.Alignment statistics
Table 1 Statistics yemepu zvawanikwa
Tafura 2 Nhamba dze exome kutorwa
2.Variation Detection
Mufananidzo 1 Nhamba dzeSNV uye InDel
3.Advanced Analysis
Mufananidzo 2 Circos chirongwa cheGenome-wide inokuvadza SNV uye InDel
Tafura 3 Kuongororwa kwemajini anokonzera zvirwere
