Iimveliso

Ulandelelwano lwe-Exome yoMntu

Ulandelelwano lwe-Human Whole Exome Featured Image

I-Whole exome sequencing (i-WES) ithathwa njengesicwangciso esiliqili sokulandelelanisa iindleko zokuchonga iinguqu ezibangela izifo.Nangona i-exons ithatha kuphela malunga ne-1.7% ye-genome epheleleyo, imele iprofayili yemisebenzi yeprotheyini ngokuthe ngqo.Kwi-genome yomntu, kuye kwaxelwa ukuba ngaphezulu kwe-85% yotshintsho olunxulumene nesifo lwenzeka kwindawo yekhowudi yeprotheyini.

I-BMKGENE inikezela ngeenkonzo ezibanzi neziguquguqukayo zolandelelwano lwabantu ngokubanzi kunye neendlela ezahlukeneyo zokubamba ze-exon ezikhoyo ukuhlangabezana neenjongo ezahlukeneyo zophando.

Iqonga: I-Illumina NovaSeq Platform

Qhagamshelana nathi

Iinkcukacha zeNkonzo

Iziphumo zeDemo

Iinkonzo eziluncedo

● Ummandla oJoliswe kwiProtheyini yokuKhowuda: ngokubamba kunye nokulandelelanisa ummandla wekhowudi yeprotheyini, i-hWES isetyenziselwa ukuveza ukwahluka okunxulumene nobume beprotheyini;
● Ukuchaneka okuPhakamileyo: ngobunzulu bolandelelwano oluphezulu, i-hWES iququzelela ukufunyanwa kokwahluka okuqhelekileyo kunye nokwahluka okunqabileyo okunezakhelo ezingaphantsi kwe-1%;
● Iindleko eziSebenzayo: i-hWES ivelisa malunga ne-85% yeenguqu zesifo somntu ukusuka kwi-1% ye-genome yomntu;
● Iinkqubo ezintlanu ezingqongqo ze-QC ezigubungela yonke inkqubo nge-Q30>85% eqinisekisiweyo.

IiNkcazelo zeSampule

Iqonga

Ithala leencwadi

Exon Capture Strategy

Cebisa iQhinga lolandelelwano

I-Illumina NovaSeq Platform

PE150

I-Agilent SureSelect Human All Exon V6

IDT xGen Exome Hyb Panel V2

5Gb

10 Gb

IiMfuno zeSampulu

Uhlobo lweSampuli

Isixa(Qubit® )

Umthamo

Ukugxila

Ubunyulu(NanoDrop™)

Genomic DNA

≥ 300 ng

≥ 15 μL

≥ 20 ng/μL

OD260/280=1.8-2.0

akukho kuthotywa, akukho kungcoliseka

Ubunzulu bolandelelwano olucetyiswayo

Ukuphazamiseka kweMendelian / izifo ezinqabileyo: ubunzulu bokulandelelanisa obusebenzayo ngaphezu kwe-50 ×
Kwiisampuli zethumba: ubunzulu bolandelelwano olusebenzayo ngaphezu kwe-100 ×