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Cov khoom

Human Whole Exome Sequencing

Tag nrho exome sequencing (WES) yog suav hais tias yog ib qho txiaj ntsim sequencing zoo rau kev txheeb xyuas cov kab mob uas ua rau muaj kev hloov pauv.Txawm hais tias exons tsuas yog siv li ntawm 1.7% ntawm tag nrho genome, nws sawv cev rau qhov profile ntawm tag nrho cov protein ua haujlwm ncaj qha.Hauv tib neeg genome, nws tau raug tshaj tawm tias ntau dua 85% ntawm cov kab mob cuam tshuam txog kev hloov pauv tshwm sim hauv cheeb tsam protein coding.

BMKGENE muab cov kev pabcuam dav dav thiab hloov tau yooj yim tib neeg tag nrho cov kev pabcuam exome sequencing nrog txawv exon capturing tswv yim muaj kom tau raws li ntau yam kev tshawb fawb lub hom phiaj.

Platform: Illumina NovaSeq Platform


Cov ntsiab lus kev pabcuam

Cov txiaj ntsig Demo

Kev Pabcuam Zoo

● Targeted Protein Coding Region: los ntawm kev ntes thiab ua raws cov protein coding cheeb tsam, hWES yog siv los nthuav tawm cov kev sib txawv ntsig txog cov qauv protein;
● High Accuracy: nrog qhov sib sib zog nqus qhov tob, hWES tswj xyuas cov kev sib txawv thiab tsis tshua muaj qhov sib txawv nrog zaus qis dua 1%;
● Tus Nqi Zoo: hWES yields kwv yees li 85% ntawm tib neeg cov kab mob hloov los ntawm 1% ntawm tib neeg genome;
● Tsib nruj QC cov txheej txheem npog tag nrho cov txheej txheem nrog Q30> 85% lav.

Qauv Specifications

Platform

 

Lub tsev qiv ntawv

 

Exon Capture Strategy

 

 Pom zoo Sequence Strategy

 

 

 

Illumina NovaSeq Platform

 

PEB 150

Agilent SureSelect Tib Neeg Txhua Tus Exon V6

IDT xGen Exome Hyb Vaj Huam Sib Luag V2

5gb ib

10 Gb

Cov Qauv Xav Tau

Hom qauv

 

 Tus nqi(Qubit®)

 

Ntim

 

 Nco ntsoov

 

 

 Purity (NanoDrop ™)

 

Genomic DNA

 

≥ 300 ng
≥ 15 μL
≥ 20 ng / μL
 
OD 260/280 = 1.8-2.0
 
tsis muaj degradation, tsis muaj paug

 

Pom zoo Sequencing qhov tob

Rau Mendelian kab mob / cov kab mob tsis tshua muaj: ua kom muaj txiaj ntsig zoo tshaj 50 ×
Rau cov qog nqaij hlav: qhov ua tau zoo sib luag qhov tob tshaj 100 ×

Bioinformatics

WES_BI workflow_Disease-01
WES_BI workflow_Tumor-01

Kev Pabcuam Ua Haujlwm Flow

coj mus kuaj

Qauv xa tuaj

Pilot kev sim

DNA rho tawm

Kev npaj tsev qiv ntawv

Kev tsim kho tsev qiv ntawv

Sequencing

Sequencing

Cov ntaub ntawv tsom xam

Cov ntaub ntawv tsom xam

数据上传-01

Kev xa cov ntaub ntawv

Kev pab cuam tom qab muag

Kev pab cuam tom qab muag


  • Yav dhau los:
  • Tom ntej:

  • 1.Txoj kev txheeb cais

    Table 1 Statistics of map result

     

    wps_doc_19

    Table 2 Statistics ntawm exome capture

    wps_doc_2

    2.Variation Detection

    Daim duab 1 Statistics ntawm SNV thiab InDel

    wps_doc_4

    wps_doc_3


     

    3. Kev soj ntsuam Advanced

    Daim duab 2 Circos zaj duab xis ntawm Genome-wide teeb meem SNV thiab InDel

    wps_doc_5 wps_doc_6

    Table 3 Kev tshuaj ntsuam xyuas cov noob kab mob

    wps_doc_7 wps_doc_8 wps_doc_9

     

    tau ib nqe lus

    Sau koj cov lus ntawm no thiab xa tuaj rau peb

    Xa koj cov lus rau peb: