Lihlahisoa

Sequencing ea Exome ea Motho e Felletseng

Human Whole Exom Sequencing Featured Image

Whole exome sequencing (WES) e nkuoa e le leano la tatelano le baballang chelete bakeng sa ho tseba liphetoho tse bakang mafu.Leha li-exons li nka hoo e ka bang 1.7% ea genome kaofela, e emela boemo ba tšebetso ea protheine ka kotloloho.Liphatseng tsa lefutso tsa motho, ho tlalehiloe hore ho feta 85% ea liphetoho tse amanang le mafu li etsahala sebakeng sa protheine ea likhoutu.

BMKGENE e fana ka lits'ebeletso tse felletseng le tse tenyetsehang tsa tatellano ea batho ka kakaretso ka maano a fapaneng a ho hapa a fumanehang ho fihlela lipheo tse fapaneng tsa lipatlisiso.

Sethala: Illumina NovaSeq Platform

Iteanye le rona

Lintlha tsa Tšebeletso

Demo Results

Melemo ea Tšebeletso

● Sebaka se Lebeletsoeng sa Protein Coding: ka ho hapa le ho hlophisa sebaka sa protheine coding, hWES e sebelisoa ho senola mefuta e fapaneng e amanang le sebopeho sa protheine;
● Ho nepahala ho Phahameng: ka botebo bo phahameng ba tatellano, hWES e thusa ho lemoha mefuta e tloaelehileng le mefuta e sa tloaelehang e nang le maqhubu a tlase ho feta 1%;
● Litšenyehelo Tse Ntle: hWES e fana ka hoo e ka bang 85% ea liphetoho tsa lefu la batho ho tloha 1% ea genome ea motho;
● Mekhoa e mehlano e tiileng ea QC e koahelang ts'ebetso eohle ka Q30>85% e tiisitsoeng.

Litlhaloso tsa Mohlala

Sethala

Laebrari

Leano la Exon Capture

Khothalletsa Leano la Tatelano

Illumina NovaSeq Platform

PE150

Agilent SureSelect Human All Exon V6

IDT xGen Exom Hyb Panel V2

5 Gb

10 Gb

Litlhoko tsa Mohlala

Mofuta oa Mohlala

Chelete(Qubit®)

Bolumo

Ho tsepamisa maikutlo

Bohloeki(NanoDrop™)

Genomic DNA

≥ 300 ng

≥ 15 μL

≥ 20 ng/μL

OD260/280=1.8-2.0

ha ho nyenyefatso, ha ho tšilafalo

Botebo ba Tatelano bo khothalelitsoeng

Bakeng sa mathata a Mendelian / mafu a sa tloaelehang: botebo ba tatellano bo sebetsang ka holimo ho 50 ×
Bakeng sa lisampole tsa hlahala: botebo ba tatellano bo sebetsang ka holimo ho 100 ×