Tsarin Dan Adam Gabaɗaya Exome
Amfanin Sabis
● Yankin Coding Protein Da Aka Yi Niyya: ta hanyar kamawa da tsara yankin coding furotin, ana amfani da hWES don bayyana bambance-bambancen da ke da alaƙa da tsarin furotin;
● Babban Daidaitawa: tare da zurfin jeri mai zurfi, hWES yana sauƙaƙe gano bambance-bambancen gama gari da bambance-bambancen da ba kasafai ba tare da mitoci ƙasa da 1%;
● Tasirin Kuɗi: hWES yana samar da kusan 85% na maye gurbin cututtukan ɗan adam daga 1% na kwayoyin halittar ɗan adam;
● Hanyoyi biyar masu tsattsauran ra'ayi na QC suna rufe dukkan tsari tare da garantin Q30>85%.
Ƙayyadaddun Misali
| Dandalin
| Laburare
| Dabarun Kama Exon
| Ba da shawarar Dabarun Jeri
|
|
Illumina NovaSeq Platform
| PE150 | Agilent SureSelect Human All Exon V6 IDT xGen Exome Hyb Panel V2 | 5 gb 10 gb |
Samfuran Bukatun
| Nau'in Misali
| Adadin(Qubit®)
| Ƙarar
| Hankali
| Tsafta (NanoDrop™) |
|
Genomic DNA
| ≥ 300 ng | ≥ 15 μl | ≥ 20 ng/μL | OD260/280=1.8-2.0 babu kaskanci, babu gurbacewa
|
Shawarwari Zurfin Jeri
Don cututtuka na Mendelian/cututtukan da ba safai ba: tasiri mai zurfi mai zurfi sama da 50 ×
Don samfuran ƙari: ingantaccen tsarin zurfafawa sama da 100 ×
Bioinformatics
Gudun Aikin Sabis
Samfurin bayarwa
Cire DNA
Gina ɗakin karatu
Jeri
Binciken bayanai
Isar da bayanai
Bayan-sayar da sabis
1.Alignment statistics
Table 1 Kididdigar sakamakon taswira
Table 2 Kididdigar kama exome
2.Bambancin Ganewa
Hoto 1 Kididdigar SNV da InDel
3.Babban Bincike
Hoto 2 Makircin Circos na Genome-fadi mai cutarwa SNV da InDel
Tebur na 3 Binciken kwayoyin halitta masu haddasa cututtuka
