● 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.
●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.
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 |
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
|
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
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
Idatha QC-Amanani e-Omgo
Ukuchongwa okwahlukileyo-I-Indels
Uhlalutyo oluphambili: Ukuchongwa kunye nokusasazwa kweSnps Eclection / i-Indiels - i-circos yento
Uhlalutyo lwe-Tumor: Ukuchongwa kunye nokusasazwa kotshintsho lwe-succos-circos
Uhlalutyo lwe-tumar: I-Clonal Inet