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Sequencing ya Human Whole Exome

Chifaniziro cha Human Whole Exme Sequencing Chithunzi Chowonetsedwa

Human Whole exome sequencing (hWES) imadziwika kuti ndiyo njira yotsika mtengo komanso yamphamvu yolondolera masinthidwe omwe amayambitsa matenda. Ngakhale amangopanga pafupifupi 1.7% ya ma genome onse, ma exons amagwira ntchito yofunika kwambiri powonetsa momwe mapuloteni amagwirira ntchito. Makamaka, mu ma genome aumunthu, kupitilira 85% ya masinthidwe okhudzana ndi matenda amawonekera mkati mwa zigawo zama protein. BMKGENE imapereka ntchito yokwanira komanso yosinthika ya anthu onse amtundu wa exome yokhala ndi njira ziwiri zojambulira za exon zomwe zilipo kuti zikwaniritse zolinga zosiyanasiyana za kafukufuku.

Lumikizanani nafe

Tsatanetsatane wa Utumiki

Zotsatira za Demo

Mawonekedwe a Utumiki

● Mapanelo awiri a exome omwe alipo potengera kukulitsa chandamale ndi ma probe: Sure Select Human All Exon v6 (Agilent) ndi xGen Exome Hybridization Panel v2 (IDT).

● Kutsata pa Illumina NovaSeq.

● Bioinformamatic pipeline yolunjika ku matenda kapena kufufuza chotupa.

Ubwino wa Utumiki

●Zolinga Zachigawo cha Protein Coding: Pojambula ndi kutsata zigawo za mapuloteni, hWES imagwiritsidwa ntchito kuwulula zosiyana zokhudzana ndi kapangidwe ka mapuloteni.

●Mtengo wake:hWES imatulutsa pafupifupi 85% ya masinthidwe okhudzana ndi matenda amunthu kuchokera ku 1% ya majenomu amunthu.

●Kulondola Kwambiri: Ndi kuzama kwakukulu kotsatizana, hWES imathandizira kuzindikira mitundu yodziwika bwino komanso mitundu yosowa kwambiri yokhala ndi ma frequency ochepera 1%.

●Kuwongolera Kwabwino Kwambiri: Timagwiritsa ntchito mfundo zisanu zowongolera pamagawo onse, kuyambira pakukonzekera kwachitsanzo ndi laibulale mpaka kutsatizana ndi bioinformatics. Kuyang'anitsitsa mosamalitsa kumeneku kumatsimikizira kuperekedwa kwa zotsatira zabwino nthawi zonse.

●Comprehensive Bioinformatics Analysis: mapaipi athu amapitilira kuzindikiritsa kusiyanasiyana kwa ma genome, popeza amaphatikiza kusanthula kwapamwamba komwe kumapangidwira makamaka mafunso ofufuza okhudzana ndi chibadwa cha matenda kapena kusanthula chotupa.

●Thandizo Pambuyo Pakugulitsa:Kudzipereka kwathu kumapitilira kutha kwa projekiti ndi nthawi ya miyezi itatu mutagulitsa. Panthawiyi, timapereka zotsatila za polojekiti, chithandizo chazovuta, ndi magawo a Q&A kuti tiyankhe mafunso aliwonse okhudzana ndi zotsatira.