● Ƙungiyoyin exome guda biyu suna samuwa bisa ga wadatar da niyya tare da bincike: Tabbas Zaɓi Human All Exon v6 (Agilent) da xGen Exome Hybridization Panel v2 (IDT).
● Sequencing akan Illumina NovaSeq.
Bututun bioinformatic da aka nufa zuwa nazarin cututtuka ko bincike na ƙari.
●Yana Nufin Yankin Kaddamar da Protein: Ta hanyar kamawa da aiwatar da yankuna masu rikodin furotin, ana amfani da hWES don bayyana bambance-bambancen da ke da alaƙa da tsarin furotin.
●Tasirin Farashi:hWES yana samar da kusan kashi 85% na maye gurbi da ke da alaƙa da cutar daga 1% na kwayoyin halittar ɗan adam.
●Babban Daidaito: Tare da zurfin jeri mai zurfi, hWES yana sauƙaƙe gano nau'ikan bambance-bambancen guda biyu da bambance-bambancen da ba kasafai ba tare da mitoci ƙasa da 1%.
●Tsananin Kula da Inganci: Muna aiwatar da matakan sarrafawa guda biyar a duk matakai, daga samfurin da shirye-shiryen ɗakin karatu zuwa jerin abubuwa da bioinformatics. Wannan saka idanu mai kyau yana tabbatar da isar da sakamako mai inganci akai-akai.
●Cikakken Binciken Bioinformatics: bututun mu ya wuce gano bambance-bambancen zuwa ga kwayoyin halitta, kamar yadda ya haɗa da bincike mai zurfi da aka tsara don magance tambayoyin bincike na musamman da suka shafi kwayoyin halitta na cututtuka ko nazarin tumor.
●Tallafin Bayan-tallace-tallace:Alƙawarinmu ya wuce bayan kammala aikin tare da lokacin sabis na watanni 3 bayan-sayar. A wannan lokacin, muna ba da bibiyar aikin, taimako na warware matsala, da kuma zaman Q&A don magance duk wata tambaya da ta shafi sakamakon.
Dabarun Kama Exon | Dabarun Jeri | Fitowar Bayanan da aka Shawarta |
Tabbas Zaɓi ɗan Adam Duk Exon v6 (Agilent) ko xGen Exome Hybridization Panel v2 (IDT)
| Illumina NovaSeq PE150 | 5-10 GB Ga cututtuka na mendelian/cututtukan da ba kasafai ba:> 50x Don samfuran ƙari: ≥ 100x |
Nau'in Misali
| Adadin(Qubit®)
| Hankali | Ƙarar
| Tsarki (NanoDrop™) |
Genomic DNA
| ≥ 50 ng | ≥ 6 ng/μL | ≥ 15 μl | OD260/280=1.8-2.0 babu kaskanci, babu gurbacewa
|
Binciken bioinformatic na samfuran hWES-cuta ya haɗa da:
● Jeri bayanai QC
● Daidaita Tsarin Halitta
● Gano SNPs da InDels
● Bayanin Aiki na SNPs da InDels
Binciken bioinformatic na samfuran ƙari ya haɗa da:
● Jeri bayanai QC
● Daidaita Tsarin Halitta
● Gano SNPs, InDels da bambancin somatic
● Gano bambance-bambancen germline
● Binciken sa hannun maye gurbi
● Gano kwayoyin halittar motsa jiki bisa ga maye gurbi na samun aiki
● Bayanin maye gurbi a matakin raunin ƙwayoyi
● Binciken nau'i-nau'i - ƙididdiga na tsabta da ploidy
Data QC - ƙididdiga na kama Exome
Bambance-bambancen ganewa - InDels
Babban bincike: ganowa da rarraba SNPs/InDels masu lalacewa - makircin Circos
Binciken Tumor: ganewa da rarraba maye gurbi na somatic - makircin Circos
Tumor analysis: clonal lineages