Imikhiqizo

Ukulandelana Kwe-Exome Yabantu Bonke

Isithombe Esifakiwe Sokulandelana Kwe-Exome Yabantu Bonke

Ukulandelana kwe-Human Whole exome (hWES) kwamukelwa kabanzi njengendlela yokulandelana engabizi kakhulu futhi enamandla yokuthola izinguquko ezibangela izifo. Naphezu kokuthi yakha cishe u-1.7% we-genome yonke, ama-exons adlala indima ebalulekile ngokubonakalisa ngqo iphrofayili yemisebenzi yeprotheni iyonke. Okuphawulekayo ukuthi, ku-genome yomuntu, ngaphezu kuka-85% wezinguquko ezihlobene nezifo ezibonakala ezindaweni zokubhala ikhodi yamaprotheni. I-BMKGENE inikeza insizakalo ephelele futhi eguquguqukayo yokulandelana kwe-human whole exome enamasu amabili ahlukene okubamba ama-exon atholakalayo ukuze kuhlangatshezwane nemigomo eyahlukene yocwaningo.

Xhumana nathi

Imininingwane Yesevisi

Imiphumela Yedemo

Izici Zesevisi

● Amaphaneli amabili e-exome atholakala ngokusekelwe ekuthuthukisweni kwethagethi ngama-probe: i-SureSelect Human All Exon v6 (Agilent) kanye ne-xGen Exome Hybridization Panel v2 (IDT).

- Ngokusekelwe ku-SureSelect Human All Exon V6 Panel, izifunda ze-UTR kanye ne-mtDNA egcwele ubude zingezelelwa kububanzi bokubamba okuqondiwe.
- Ukwakhiwa komtapo wolwazi osebenzisa i-UMI kuyatholakala nge-SureSelect Human All Exon V6 Panel.

● Ukulandelana kwezithombe ku-Illumina NovaSeq.

● Ipayipi le-bioinformatic eliqondiswe ekuhlaziyweni kwesifo noma ekuhlaziyweni kwesimila.

Izinzuzo Zesevisi

●I-Targets Isifunda Sokubhala Amakhodi Amaprotheni: Ngokubamba nokulandelanisa izifunda zokubhala ikhodi yamaprotheni, i-hWES isetshenziswa ukwembula izinhlobo eziphathelene nesakhiwo samaprotheni.

●Kuqiza kahle:I-hWES ikhiqiza cishe u-85% wezinguquko ezihlobene nesifo somuntu ezivela ku-1% we-genome yomuntu.

●Ukunemba Okuphezulu: Ngokujula okuphezulu kokulandelana, i-hWES yenza kube lula ukuthola kokubili izinhlobo ezivamile kanye nezinhlobo ezingavamile ezinemvamisa engaphansi kuka-1%.

●Ukulawulwa Kwekhwalithi Okuqinile: Sisebenzisa amaphuzu okulawula amahlanu ayinhloko kuzo zonke izigaba, kusukela ekulungiseleleni amasampula kanye nomtapo wolwazi kuya ekulandeleni kanye ne-bioinformatics. Lokhu kuqapha ngokucophelela kuqinisekisa ukulethwa kwemiphumela esezingeni eliphezulu njalo.

●Ukuhlaziywa Okuphelele Kwe-Bioinformatics: umzila wethu udlula ekuboneni ukwehluka kwe-genome ebhekiselwe kuyo, njengoba uhlanganisa ukuhlaziywa okuthuthukisiwe okwenzelwe ukubhekana ngqo nemibuzo yocwaningo ehlobene nezici zofuzo zezifo noma ukuhlaziywa kwesimila.

●Usekelo Lwangemva Kokuthengisa:Ukuzibophezela kwethu kudlulela ngale kokuqedwa kwephrojekthi ngesikhathi senkonzo yezinyanga ezintathu ngemuva kokuthengisa. Phakathi nalesi sikhathi, sinikeza ukulandelwa kwephrojekthi, usizo lokuxazulula izinkinga, kanye nezikhathi ze-Q&A ukuze kuxazululwe noma yimiphi imibuzo ehlobene nemiphumela.

Imininingwane Yesampula

Isu Lokubamba I-Exon

Isu Lokulandelana

Ukukhishwa Kwedatha Okunconyiwe

I-Agilent SureSelectXT Human Zonke i-Exon V6 + UTR + mtDNA

I-Agilent SureSelectXT Human All Exon V6 + UTR + mtDNA (ene-UMI)

Iphaneli ye-Hyb ye-IDT xGen Exome V2

I-Illumina NovaSeq PE150

5 -10 Gb

Ngezifo ze-mendelian/izifo ezingavamile: > 50x

Kumasampula esimila: ≥ 100x

Izidingo Zesampula

Uhlobo Lwesampula

Inani(Qubit®)

Ukugxila

Ivolumu

Ijeli le-Agarose

I-WES-FF

≥ 150 ng

≥ 15 ng/µL

≥ 15 µL

Akukho noma ukungcola kanye nokuwohloka okulinganiselwe (Ibhendi eyinhloko icacile).
I-DNA ye-FFPE: Uma ibhendi eyinhloko ingacacile, kudingeka i-smear ehlukile engaphezu kuka-2 kb.

I-WES-FFPE

≥ 200 ng

≥ 15 ng/µL