● E lua vaega e lua o loʻo avanoa i luga o le faʻamoemoe e mafai ona fai ma props: mautinoa le tagata uma exon v6 (Agilent) ma XGENT
● Sequenising i luga o le Yiumlia Novaseq.
● Boingaticatic Pipeline faʻasino atu i le auiliiliga o suʻesuʻega poʻo le faʻamatalaga auiliiliga.
●Sini o Porotini Cordin Vaitu: E ala i le puʻeina ma le le mautonu o le Porotini Crodin, HWES e faʻaaogaina e faʻaalia ai ni suisui e fesoʻotaʻi ma le porotini fausaga.
●Tau le aoga:Ua tuʻuina atu e le au talimalo o le 85% o le maʻi o le maʻi o tagata mai le 1% o le tagata valea tagata.
●Maualuga le sao: Ma le maualuga o le faʻasologa o le loloto, hwes faʻafaigofie le mauaina o le sili atu o faʻafitauli masani ma seasea valevale i lalo ifo o le 1%.
●Malo le lelei: Matou te faʻatinoina le lima o le vaega autu o loʻo pulea manatu i vaega uma, mai le faʻataʻitaʻiga ma le faletusi tapenaga i se lipine ma le bionini. O lenei manatu faʻapitoa e mautinoa ai le tuʻuina atu o le sili ona lelei-tulaga maualuga.
●Malamalamaaga o bioninictictics auiliiliga: O la matou paipa e sili atu ona o le matauina o fesuiaiga i le manatu o le manatu, e pei ona aofia ai ma le auiliiliga o suesuega na fuafuaina i ni vaega o faʻamaʻi poʻo le tala.
●Lagolago lagolago:O la matou tautinoga na sosoʻo atu i tua atu o le poloketi na maeʻa le 3-masina ina ua faʻatau atu auaunaga. I le taimi lea, matou te ofoina atu ai le faʻagaioiga e mulimulitaʻia, faʻafitauli fesoasoani, ma Q & ma ni sauniga e faʻailoa ai soʻo se fesili e fesoʻotaʻi ma faʻaiuga.
O le Exmon na pueina fuafuaga | SUʻESUʻEGA FAʻATASI | Fautuaina Luga Faamatalaga Galuega |
Mautinoa filifili tagata uma exon v6 (Agiutent) poʻo le xgen Execame Hybordization Panel V2 (IDT)
| Immumina novaseq Pe150 | 5 -10 GB Mo Mendelian Defturder / Rare Seti:> 50x Mo le temor faʻataʻitaʻiga: ≥ 100x |
Faʻataʻitaʻiga ituaiga
| Aofaiga(Qubit®)
| Tuʻufua | Fua
| Mamaina (NanDop ™) |
Genomic dna
| ≥ 50 ng | ≥ 6 ng / μl | ≥ 15 μl | OD260 / 280 = 1.8-2.0 leai se faʻaleagaina, leai se afaina
|
O le talaaga bionicatic auiliiliga o HWES-S faamai o faʻamaʻi e aofia ai:
● Sequening data QC
● Faasino le mamalu
● Faailoaina o snap ma le tui
● Faʻataʻitaʻiga o le faʻailoga o le snip ma le faʻailoga
Bioinicatic auiliiliga o togi faʻataʻitaʻiga e aofia ai:
● Sequening data QC
● Faasino le mamalu
● Faailoaina o SNP, Indels ma Smamatic Vligitions
● Faailoaina o siama o germline
● Faʻamalu faʻailoga auiliiliga
● Faailoaina o le drive genes faʻavae i luga o le mauaina o tupe-o galuega
● toefaʻatasia faʻamatalaga i le tulaga o le vailaʻau faigofie
● heterogenely auiliiliga - fuafuaina o le mama ma le pipidy
Faamatalaga QC - Statistics o le Exemage Shrest
Vaevaega le faailoaina - o le Indels
Iloiloga alualu i luma: Faailoaina ma tufatufa atu o le leai o se SNPS / Indels - Circos Patlos
Suʻesuʻega Faʻapitoa: Faʻailoaina ma le tufatufaina o le Smamatic Floves - Circos Patlos
Tala o le Tumar: Clonal Lines