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Ukulandelana kwe-Human Whole Exome

Ukulandelanisa kwe-Human Whole Exome Isithombe Esifakiwe

I-Human Whole exome sequencing (hWES) yaziwa kabanzi njengendlela engabizi kakhulu futhi enamandla yokulandelanisa ukukhomba uguquko olubanga izifo. Naphezu kokwakha cishe u-1.7% walo lonke uhlobo lofuzo, ama-exons adlala indima ebalulekile ngokubonisa ngokuqondile iphrofayili yengqikithi yokusebenza kwamaprotheni. Ngokuphawulekayo, ku-genome yomuntu, ngaphezu kwe-85% yokuguqulwa kwezifo ezihlobene nezifo kubonakala ngaphakathi kwezifunda zekhodi yamaprotheni. I-BMKGENE inikeza insizakalo yokulandelanisa ye-exome ephelele futhi eguquguqukayo enamasu amabili ahlukene okuthwebula ama-exon atholakalayo ukuze kuhlangatshezwane nezinjongo zocwaningo ezihlukahlukene.

Xhumana nathi

Imininingwane Yesevisi

Imiphumela yedemo

Izici Zesevisi

● Amaphaneli e-exome amabili atholakalayo asekelwe ekuthuthukisweni okuhlosiwe okunama-probe: Sure Khetha Human All Exon v6 (Agilent) kanye ne-xGen Exome Hybridization Panel v2 (IDT).

● Ukulandelanisa ku-Illumina NovaSeq.

● Ipayipi le-bioinformatiki eliqondiswe ekuhlaziyeni isifo noma ekuhlaziyeni isimila.

Izinzuzo Zesevisi

●Iphokophele Isifunda Sokubhala Amaprotheni: Ngokuthwebula nokuhlela izifunda zekhodi yamaprotheni, i-hWES isetshenziselwa ukuveza okuhlukile okuhlobene nesakhiwo samaprotheni.

●Kuqiza kahle:I-hWES ikhiqiza cishe u-85% wezinguquko ezihambisana nesifo somuntu kusuka ku-1% wegenome yomuntu.

●Ukunemba Okuphezulu: Ngokujula kokulandelana okuphezulu, i-hWES isiza ukutholwa kwakho kokubili okuhlukile okujwayelekile nokuhlukile okungajwayelekile okunamafrikhwensi angaphansi kuka-1%.

●Ukulawulwa Kwekhwalithi Okuqinile: Sisebenzisa amaphuzu amahlanu okulawula abalulekile kuzo zonke izigaba, kusukela kusampula nokulungiswa komtapo wezincwadi ukuya ekulandeleni nasekulandeleni i-bioinformatics. Lokhu kuqapha ngokucophelela kuqinisekisa ukulethwa kwemiphumela ehlala njalo yekhwalithi ephezulu.

●Ukuhlaziywa Kwe-Bioinformatics Okubanzi: ipayipi lethu lidlulela ngalé kokukhomba ukuhlukahluka ku-genome eyinkomba, njengoba lihlanganisa ukuhlaziya okuthuthukisiwe okuklanyelwe ukubhekana ngqo nemibuzo yocwaningo ehlobene nezici zofuzo zezifo noma ukuhlaziywa kwesimila.

●Ukusekelwa Kwangemva Kokuthengisa:Ukuzinikela kwethu kudlulela ngalé kokuphothulwa kwephrojekthi ngenkathi yesevisi yezinyanga ezi-3 ngemva kokuthengisa. Ngalesi sikhathi, sinikezela ngokulandelelwa kwephrojekthi, usizo lokuxazulula inkinga, namaseshini e-Q&A ukuze siphendule noma yimiphi imibuzo ehlobene nemiphumela.