Imikhiqizo

Ukulandelana kwe-Human Whole Exome

Ukulandelanisa kwe-Human Whole Exome Isithombe Esifakiwe

I-Whole exome sequencing (WES) ithathwa njengesu lokulandelana elingabizi kakhulu lokuhlonza ukuguqulwa okubangela izifo.Nakuba ama-exons athatha kuphela cishe u-1.7% wayo yonke i-genome, imele iphrofayili yengqikithi yemisebenzi yamaprotheni ngokuqondile.Ku-genome yomuntu, kubikwe ukuthi ngaphezu kwama-85% wezinguquko ezihlobene nesifo zenzeka endaweni yokufaka ikhodi yamaprotheni.

I-BMKGENE inikeza izinsiza eziphelele neziguquguqukayo zokulandelanisa i-exome yomuntu ngamasu ahlukene okuthwebula ama-exon atholakalayo ukuze kuhlangatshezwane nezinjongo zocwaningo ezihlukahlukene.

Ipulatifomu: I-Illumina NovaSeq Platform

Xhumana nathi

Imininingwane Yesevisi

Imiphumela yedemo

Izinzuzo Zesevisi

● Isifunda Sokuhlanganisa Amaprotheni Okuhlosiwe: ngokubamba nokuhlela indawo yekhodi yamaprotheni, i-hWES isetshenziselwa ukuveza okuhlukile okuhlobene nesakhiwo samaprotheni;
● Ukunemba Okuphezulu: ngokujula kokulandelana okuphezulu, i-hWES isiza ukutholwa kwezinhlobonhlobo ezivamile nokuhluka okungajwayelekile okunamaza angaphansi kuka-1%;
● Ukuphumelela Kwezindleko: I-hWES ikhiqiza cishe u-85% wokuguquka kwezifo zabantu kusuka ku-1% we-genome yomuntu;
● Izinqubo ezinhlanu eziqinile ze-QC ezihlanganisa yonke inqubo nge-Q30>85% eqinisekisiwe.

Imininingwane Yesampula

Inkundla

Umtapowolwazi

I-Exon Capture Isu

Ncoma Isu Lokulandelanisa

I-Illumina NovaSeq Platform

I-PE150

I-Agilent SureSelect Human All Exon V6

IDT xGen Exome Hyb Panel V2

5 gb

10 Gb

Izidingo Zesampula

Uhlobo lwesampula

Inani(Qubit®)

Ivolumu

Ukugxila

Ukuhlanzeka(NanoDrop™)

I-Genomic DNA

≥ 300 ng

≥ 15 μL

≥ 20 ng/μL

OD260/280=1.8-2.0

akukho ukucekelwa phansi, akukho ukungcoliswa

Ukujula Kokulandelana Okunconyiwe

Ngezinkinga ze-Mendelian/izifo ezingavamile: ukujula kokulandelana okuphumelelayo ngaphezu kwe-50 ×
Kumasampuli wesimila: ukujula kokulandelana okusebenzayo okungaphezu kuka-100×