Exclusive Agency for Korea

条形 isibhengezo-03

Iimveliso

Iphela ngokupheleleyo

I-gemumeding iyonke i-goome (i-HWES) ivunywa ngokubanzi njengendlela esebenzayo nenamandla yokuhamba-hlula izifo ezibonisa isifo. Ngaphandle kokwenza malunga ne-1.7% kuphela ye-genome yonke, ukona iindima ezibalulekileyo ngokubonisa ngokuthe ngqo iprofayili yemisebenzi yeprotheyini yeprotheyini. Ngokukodwa, kwi-genome yomntu, ngaphezulu kwe-85% yenguqu enxulumene nezifo ezibonakala kwimimandla yeProtein. I-Bmkgene ibonelela ngenkonzo epheleleyo nebhetele eguqukayo enobuchule obunezicwangciso-nkqubo ezimbini zokufumana idatha ekhoyo yokufikelela kwiinjongo zophando ezahlukeneyo.


Iinkcukacha zenkonzo

Iziphumo

Iimpawu zenkonzo

● Iipaneli ezimbini ze-Omome ezikhoyo ngokusekwe ekuphuculeni kwethagethi kunye nePomees: Ngokuqinisekileyo khetha Umntu yonke i-Ex6 (i-Agugent) kunye ne-chagen i-vnel ye-v2 (i-ID).

● Ukulandelelana kwi-Ilimina Novaq.

● I-biuineforformatic piholiline ejolise kuhlalutyo lwezifo okanye uhlalutyo lwethumba.

Izibonelelo zeNkonzo

I-Iprojekti yeTeksi: Ngokufaka i-protein commain imimandla yekhowudi, i-HWES isetyenziselwa ukutyhila ngokwamahluko onxulumene nolwakhiwo lweprotein.

Isebenza kakuhle emalini:I-HWS ivelisa malunga ne-85% yenguqulelo enxulumene nesifo esuka kwi-1% ye-genome yomntu.

Ukuchaneka okuphezulu: Ngobunzulu obuphezulu, i-HWES iququzelela ukufunyanwa koomatshini bokungaqhelekanga kunye neentshukumo ezinqabileyo ngezantya eziphezulu ze-1%.

Ulawulo oluqhelekileyo lomgangatho: Sisebenzisa iindawo ezintlanu zolawulo kuwo onke amabakala, ukusuka kwisampulu kunye nokulungiswa kwelayibrari ukulandelelana kunye ne-bioincformatics. Ukuhlolisisa okunyanzelekileyo kuqinisekisa ukuhanjiswa kweziphumo ezisemgangathweni eziphezulu.

Uhlalutyo olubanzi lwe-bioinformatics: I-pipeline yethu ihamba ngaphaya kokuchonga ukwahlukahlukaniso kwireferensi ye-genome, njengoko ibandakanya uhlalutsho oluhlalutyo olwenzelwe ukulungisa imibuzo yophando olunxulumene nemiba yezifo okanye uhlalutyo lwethumba.

Inkxaso yasemva kwentengiso:Ukuzibophelela kwethu kugqitha ngaphaya kokugqitywa kweprojekthi kunye nexesha lenkonzo yenkonzo yasemva kwenkonzo emva kwenkonzo. Ngeli xesha, sinikezela ngeprojekthi yokulandela iprojekthi, uncedo lokucombulula iingxaki, kunye ne-Q & Iiseshoni zokujongana nayo nayiphi na imibuzo enxulumene neziphumo.

Ingcaciso yesampulu

Icebo lokufaka i-Exn

Isicwangciso sokulandelelana

Imveliso yedatha ecetyiswayo

Ngokuqinisekileyo khetha Umntu yonke i-exon v6 (i-afilent)

okanye i-XNJN EGNRIDIDIRD yePhaneli v2 (idt)

 

I-Ilnumina Novaseq Pe150

I-5 -10 GB

Kwingxaki yeMendel / izifo ezinqabileyo:> 50x

Iisampulu zethumba: ≥ 100x

Iifoto zeSampula

Uhlobo lwesampulu

 

 Isixa(Qhagamshela i-qubit®)

 

Uxinzelelo 

Ivolumu

 

 

 Ucoceko (i-nanodrop ™)

 

I-DNAIC ye-DNA

 

≥ 50 NG
≥ 6 Ng / μl
≥ 15 μl
 
I-OD260 / 280 = 1.8-2.0
 
Akukho hlazo, akukho ungcoliseko

 

I-Bioinformatics

I-Wes_bi yokuhamba kwe-Wes_biase-01

Uhlalutyo lwe-bioinformatic lezifo ze-HWES-Izifo ezibandakanya:

● Ukulandelelana kwedatha ye-QC

● Ukulungelelaniswa kwe-genome

● Ukuchongwa kwe-snps kunye ne-indels

● Ukunyanzeliswa kwe-snps kunye ne-indels

I-Wes_bi yokuhamba kwe-Wes_Birumor-01

Uhlalutyo lwe-bioinformatic lwe-tumoor iisampulu zibandakanya:

● Ukulandelelana kwedatha ye-QC

● Ukulungelelaniswa kwe-genome

● Ukuchongwa kwe-SNPS, i-Indels kunye nokwahluka kwengqondo

● Ukuchongwa kwe-goriline ye-goriline

● Uhlalutyo lokuThintelwa kweMidd

● Ukuchongwa kweentlobo zokuqhuba ngokusekwe kwi-zuza

● Inkcazo yokuguqula kwinqanaba lokufumana iziyobisi

● Uhlalutyo lwe-heterogeneity -balwa ukucoceka kunye ne-ploidy

Ukuhamba kwenkonzo

Ukuhanjiswa kwesampula

Ukuhanjiswa kwesampula

Uvavanyo lwePilot

Ukukhutshwa kwe-DNA

Ukulungiswa kwethala leencwadi

Ulwakhiwo lwethala leencwadi

Ukulandelelana

Ukulandelelana

Uhlalutyo lwedatha

Uhlalutyo lwedatha

数据上传 -01

Ukuhanjiswa kwedatha

Emva kokuthengisa iinkonzo

Iinkonzo zentengiso emva


  • Ngaphambili:
  • Okulandelayo:

  • Idatha QC-Amanani e-Omgo

     

    I-WPS_DOC_22

     

    Ukuchongwa okwahlukileyo-I-Indels

    图片 36

    Uhlalutyo oluphambili: Ukuchongwa kunye nokusasazwa kweSnps Eclection / i-Indiels - i-circos yento

     

    图片 37

    Uhlalutyo lwe-Tumor: Ukuchongwa kunye nokusasazwa kotshintsho lwe-succos-circos

     

    图片 38

     

    Uhlalutyo lwe-tumar: I-Clonal Inet

     

    图片 39

     

    Fumana isicatshulwa

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