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Sequencing ya Human Whole Exome

Chifaniziro cha Human Whole Exme Sequencing Chithunzi Chowonetsedwa
  • Sequencing ya Human Whole Exome
  • Sequencing ya Human Whole Exome
  • Sequencing ya Human Whole Exome
  • Sequencing ya Human Whole Exome

Whole exome sequencing (WES) imatengedwa ngati njira yotsika mtengo yodziwira masinthidwe omwe amayambitsa matenda.Ngakhale ma exons amangotenga pafupifupi 1.7% ya genome yonse, imayimira mbiri ya mapuloteni onse omwe amagwira ntchito mwachindunji.Mu genome ya anthu, zanenedwa kuti kupitilira 85% ya masinthidwe okhudzana ndi matenda kumachitika m'chigawo cha protein coding.

BMKGENE imapereka njira zotsatirira komanso zosinthika za anthu okhala ndi njira zosiyanasiyana zojambulira ma exon zomwe zilipo kuti zikwaniritse zolinga zosiyanasiyana za kafukufuku.

Pulatifomu: Illumina NovaSeq Platform


Tsatanetsatane wa Utumiki

Zotsatira za Demo

Ubwino wa Utumiki

● Dera la Protein Coding Dera: pojambula ndi kutsata chigawo cha mapuloteni a mapuloteni, hWES imagwiritsidwa ntchito powonetsa zosiyana zokhudzana ndi mapuloteni;
● Kulondola Kwambiri: ndi kuzama kwakukulu kotsatizana, hWES imathandizira kuzindikira zamitundu yodziwika bwino komanso mitundu yosowa yokhala ndi ma frequency otsika kuposa 1%;
● Mtengo Wogwira Ntchito: hWES imapereka pafupifupi 85% ya kusintha kwa matenda aumunthu kuchokera ku 1% ya majeremusi aumunthu;
● Njira zisanu zokhwima za QC zomwe zimaphimba ndondomeko yonse ndi Q30> 85% yotsimikizika.

Zitsanzo Zofotokozera

nsanja

 

Library

 

Exon Capture Strategy

 

 Limbikitsani njira yotsatirira

 

 

 

Illumina NovaSeq Platform

 

Mtengo wa PE150

Agilent SureSelect Human All Exon V6

IDT xGen Exom Hyb Panel V2

5 gb pa

10 gb

Zitsanzo Zofunika

Mtundu Wachitsanzo

 

 Ndalama(Qubit®)

 
Voliyumu

 

 Kukhazikika

 

 

  Purity(NanoDrop™)

 

Genomic DNA

 

 ≥ 300 ng
≥ 15 μL
≥ 20 ng/μL
 
OD260/280=1.8-2.0
 
palibe kuwonongeka, palibe kuipitsidwa

 

Kuzama kotsatizana kovomerezeka

Kwa matenda a Mendelian / matenda osowa: kutsatizana kogwira mtima pamwamba pa 50 ×
Kwa zitsanzo za chotupa: kutsata mozama mozama pamwamba pa 100 ×

Bioinformatics

WES_BI work flow_Disease-01
WES_BI work flow_Tumor-01

Kuyenda kwa Ntchito Yantchito

kutumiza chitsanzo

Kupereka zitsanzo

Kuyesera koyendetsa ndege

Kutulutsa kwa DNA

Kukonzekera kwa Library

Kumanga laibulale

Kutsata

Kutsata

Kusanthula deta

Kusanthula deta

数据上传-01

Kutumiza kwa data

Pambuyo pogulitsa Services

Pambuyo pogulitsa ntchito

  • Zam'mbuyo:
  • Ena:

    • Ziwerengero za 1.Kulinganiza

    Table 1 Ziwerengero za zotsatira za mapu

     

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    Table 2 Ziwerengero za kujambula kwa exome

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    Kuzindikira kwa 2.Kusiyanasiyana

    Chithunzi 1 Ziwerengero za SNV ndi InDel

    wps_doc_4

    wps_doc_3


     

    3.Kusanthula Kwambiri

    Chithunzi 2 Circos chiwembu cha Genome-wide yoopsa SNV ndi InDel

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    Table 3 Kuwunika kwa majini omwe amayambitsa matenda

    wps_doc_7 wps_doc_8 wps_doc_9

     

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