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Kayayyaki

Tsarin Dan Adam Gabaɗaya Exome

Human Whole exome sequencing (hWES) an yarda da shi azaman hanya mai inganci mai tsada kuma mai ƙarfi don tantance maye gurbi mai haifar da cuta. Duk da kasancewar kusan kashi 1.7% na dukkan kwayoyin halitta, exons suna taka muhimmiyar rawa ta hanyar nuna bayanan ayyukan furotin kai tsaye. Musamman ma, a cikin kwayoyin halittar dan adam, sama da kashi 85% na maye gurbi masu alaka da cututtuka suna bayyana a cikin yankunan da ake shigar da furotin. BMKGENE yana ba da cikakkiyar sabis na jeri na ɗan adam mai sassauƙa tare da dabarun ɗaukar dabaru daban-daban guda biyu don cimma burin bincike daban-daban.


Cikakkun Sabis

Sakamakon Demo

Siffofin Sabis

● 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.

Amfanin Sabis

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.

Ƙayyadaddun Misali

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

Samfuran Bukatun

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

 

Bioinformatics

WES_BI aiki kwarara_Cutar-01

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

WES_BI aikin gudu_Tumor-01

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

Gudun Aikin Sabis

samfurin bayarwa

Samfurin bayarwa

Gwajin matukin jirgi

Cire DNA

Shirye-shiryen Laburare

Gina ɗakin karatu

Jeri

Jeri

Binciken bayanai

Binciken bayanai

数据上传-01

Isar da bayanai

Bayan Sabis na siyarwa

Bayan-sayar da sabis


  • Na baya:
  • Na gaba:

  • Data QC - ƙididdiga na kama Exome

     

    wps_doc_22

     

    Bambance-bambancen ganewa - InDels

    图片36

    Babban bincike: ganowa da rarraba SNPs/InDels masu lalacewa - makircin Circos

     

    图片37

    Binciken Tumor: ganewa da rarraba maye gurbi na somatic - makircin Circos

     

    图片38

     

    Tumor analysis: clonal lineages

     

    图片39

     

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