Fa'asologa o Exome Atoa a le Tagata
Tulaga Auaunaga
● Itulagi Fa'ailoga Polotini Fa'atatau: e ala i le pu'eina ma le fa'avasegaina o le vaega o le protein coding, o lo'o fa'aogaina le hWES e fa'aalia ai suiga e feso'ota'i ma le fausaga o porotini;
● Saʻo Maualuga: faʻatasi ai ma le loloto o le faʻasologa maualuga, e faʻafaigofie e le hWES le suʻesuʻeina o fesuiaiga masani ma fesuiaiga e le masani ai ma alalaupapa e maualalo ifo i le 1%;
● Tau: HWES e maua mai pe tusa ma le 85% o suiga o faʻamaʻi tagata mai le 1% o le genome tagata;
● E lima faiga QC faʻamalosi e aofia ai le faagasologa atoa ma Q30> 85% faʻamaonia.
Fa'ata'ita'iga Fa'amatalaga
| Fa'avae
| Faletusi
| Exon Capture Taiala
| Fautuaina Fuafuaga Fa'asologa
|
|
Illumina NovaSeq Platform
| PE150 | Agilent SureSelect Tagata Uma Exon V6 IDT xGen Exome Hyb Panel V2 | 5 Gb 10 Gb |
Fa'ata'ita'iga Manaoga
| Ituaiga Fa'ata'ita'i
| Aofaiga(Qubit® )
| Volume
| Fa'atotonuga
| Mama (NanoDrop™ ) |
|
Genomic DNA
| ≥ 300 ng | ≥ 15 μL | ≥ 20 ng/μL | OD260/280=1.8-2.0 leai se fa'aleagaina, leai se fa'aleagaina
|
Fautuaina Fa'asologa loloto
Mo fa'afitauli Mendelian/fa'ama'i seasea: loloto fa'asologa lelei i luga atu o le 50×
Mo fa'ata'ita'iga tumo: loloto fa'asologa lelei i luga ole 100×
Bioinformatics
Auala o Galuega Au'aunaga
Fa'ata'ita'iga tu'uina atu
Su'ega DNA
Fausia faletusi
Fa'asologa
Iloiloga fa'amaumauga
Tuuina atu o faʻamatalaga
Au'aunaga pe a uma ona fa'atau
1. Alignment fuainumera
Fuafuaga 1 Fa'amaumauga o fa'ai'uga o fa'afanua
Laulau 2 Fa'amaumauga o le pu'eina o le exome
2. Su'esu'ega Su'ega
Ata 1 Fa'amaumauga o SNV ma InDel
3. Su'esu'ega Maualuga
Ata 2 Circos poloka ole Genome-lautele SNV ma InDel
Fuafuaga 3 Su'esu'ega o kenera e mafua ai fa'ama'i
