Munhu akazara kutaridzika kutsakatika
Service maficha
● Zvikamu zviviri zvinobuda zvinowanikwa zvichienderana nekuvimbika kune probes: chokwadi sarudza vanhu vese exon v6 (agilent) uye xgen inonyatsotevera hybridization panel v2 (idt).
● Kuongorora kuIllumina novaseq.
● Bioinformatic plipeline yakatungamirwa kuRezvina kuongororwa kweChirwere kana Tumor kuongorora.
Zvigadzirwa zvebasa
●Target.
●Mutengo Unobudirira:Hws inobereka anenge 85% yeiyo chirwere chevanhu chakabatana nevanhu kubva 1% yeiyo genome yevanhu.
●Kunyatsojeka.
●Rudzius mhando yekudzoraIzvi Uku kutarisisa kwekutarisa kunovimbisa kuburitsa kwemhedzisiro yemhando yepamusoro yepamusoro.
●Yakakwana bioinformatics kuongororwa.
●Post-Kutengesa Tsigiro:Kuzvipira kwedu kunowedzera kupfuura purojekiti kupedzisa nemwedzi mitatu-mushure-yekutengesa basa nguva. Pakati peino nguva, isu tinopa chirongwa chekutevera-up, kugadzirisa dambudziko rekubatsira, uye Q & zvikamu zvekugadzirisa chero mibvunzo zvine chekuita nemhedzisiro.
SAMPLE Rondedzero
| Exon Batanidza zano | Kuongorora zano | Yakakurudzirwa Kubuda kweData |
| Chokwadi sarudza vanhu vese exon v6 (agilent) kana xgen inonyatsotevedzera hybridiazation panel v2 (idt)
| Illumina Novaseq Pe150 | 5 -10 GB Kune mendelian kusagadzikana / zvisingawanzo kuzvirwere:> 50x YeTumor samples: ≥ 100x |
Zvinodiwa Muenzaniso
| Sampuli mhando
| Huwandu(Qubbit®)
| Kusvinura | Vhoriyamu
| Kuchenesa (NANODROP ™) |
|
Genomic DNA
| ≥ 50 ng | ≥ 6 NG / μL | ≥ 15 μL | Od260 / 280 = 1.8-2.0 hapana kusvibiswa, hapana kusvibiswa
|
Bioinformatics
Bioinformatic kuongororwa kweHwes-chirwere samples inosanganisira:
● Sequencing data qc
● Revhisi genome alignment
● Kuzivikanwa kweSns uye Indels
● Inoshanda Ingation of SnPs uye Indels
Bioinformatic ongorora yeTumor samples inosanganisira:
● Sequencing data qc
● Revhisi genome alignment
● Kuzivikanwa kweSns, Indels uye Somatic Misiyasi
● Kuzivikanwa kwevaGermline akasiyana
● Mutauriri masaini ekuongorora
● Kuzivikanwa kwekutyaira majini zvichienderana nekuwana-kwekuita-mabasa ebasa
● Muchitive chinongedzo padanho rekushamisika kwezvinodhaka
● Heterogeneity kuongorora - kuverenga kwekuchena uye ploidy
Basa rebasa rinoyerera
Muenzaniso
Satchection
Raibhurari Kuvaka
Kutevedzana
Kuongororwa kwedata
Dhirivhari Dhivha
Mushure mekutengesa-kutengesa masevhisi
Data qc - nhamba yeatakwidza etsoka
Kusiyana-siyana kuzivikanwa - indels
Kuongororwa Kwekutanga: Kuzivikanwa uye kugovera kweBisps / Indels - Circos Urt
Tumor Kuongorora: Kuzivikanwa uye kugovera kweSomatic Muchations - Circoss Urt
Tumor Kuongorora: Clenal mutsara
