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Ulandelelwano lwe-Exome yoMntu

Ulandelelwano lwe-Human Whole Exome Featured Image

I-Human Whole exome sequencing (hWES) yamkelwa ngokubanzi njengeyona ndlela ingabiziyo kwaye inamandla yolandelelwano yokuchonga iinguqulelo ezibangela isifo. Ngaphandle kokubandakanya kuphela i-1.7% ye-genome yonke, ii-exons zidlala indima ebalulekileyo ngokubonisa ngokuthe ngqo iprofayili yemisebenzi yeprotheyini epheleleyo. Ngokucacileyo, kwi-genome yomntu, ngaphezulu kwe-85% yeenguqu ezinxulumene nezifo ezibonakaliswa kwimimandla yeekhowudi zeprotheni. I-BMKGENE inikezela ngenkonzo ebanzi kwaye eguquguqukayo yabantu exome yolandelelwano kunye neendlela ezimbini ezahlukeneyo zokubanjwa kwe-exon ezikhoyo ukuhlangabezana neenjongo ezahlukeneyo zophando.

Qhagamshelana nathi

Iinkcukacha zeNkonzo

Iziphumo zeDemo

Iimpawu zeNkonzo

● Iiphaneli ezimbini ze-exome ezifumanekayo ngokusekelwe ekuphuculeni okujoliswe kuko kunye neprobes: Ngokuqinisekileyo Khetha i-Human All Exon v6 (Agilent) kunye ne-xGen Exome Hybridization Panel v2 (IDT).

● Ulandelelwano kwi-Illumina NovaSeq.

● Umbhobho we-Bioinformatiki ojoliswe kuhlalutyo lwesifo okanye uhlalutyo lwethumba.

Iinkonzo eziluncedo

●Okujoliswe kuko kwiNgingqi yeProtheyini yokuKhowuda: Ngokubamba kunye nokulandelelanisa imimandla yeekhowudi zeprotheni, i-hWES isetyenziselwa ukuveza izinto ezahlukeneyo ezinxulumene nokwakheka kweeprotheyini.

●Isebenza kakuhle emalini:I-hWES ivelisa malunga ne-85% yeenguqu ezinxulumene nesifo somntu ukusuka kwi-1% yegenome yomntu.

●Ukuchaneka okuphezulu: Ngobunzulu bolandelelwano oluphezulu, i-hWES iququzelela ukubhaqa zombini iiyantlukwano eziqhelekileyo kunye nokwahluka okunqabileyo okunezandi ezingaphantsi kwe-1%.

●Ulawulo loMgangatho olungqongqo: Sisebenzisa iindawo zolawulo ezingundoqo ezintlanu kuzo zonke izigaba, ukusuka kwisampulu kunye nokulungiswa kwethala leencwadi ukuya kulandelelwano kunye ne-bioinformatics. Olu hlolo lucokisekileyo luqinisekisa ukuhanjiswa kweziphumo ezihlala zikumgangatho ophezulu.

●Uhlalutyo oluBanzi lweBioinformatics: umbhobho wethu uhamba ngaphaya kokuchonga iinguqu kwi-reference genome, njengoko ibandakanya uhlalutyo oluphambili oluyilelwe ukujongana ngqo nemibuzo yophando enxulumene nemiba yofuzo yezifo okanye uhlalutyo lwamathumba.

●Inkxaso yasemva kwentengiso:Ukuzinikela kwethu kudlulela ngaphaya kokugqitywa kweprojekthi kunye neenyanga ezi-3 emva kokuthengiswa kwenkonzo. Ngeli xesha, sinikezela ngokulandelelana kweprojekthi, uncedo lokusombulula ingxaki, kunye neeseshoni ze-Q&A ukujongana nayo nayiphi na imibuzo enxulumene neziphumo.