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NGS (Next Generation Sequencing) 서비스

Ion Torrent S5 차세대 시퀀서를 활용한 Clinical sequencing으로 최단 시간 내에 Cancer genomics, target gene sequencing 또는 RNA sequencing 등 대용량 분석이 가능합니다.

그림1. NGS (Next Generation Sequencing) 서비스

분석 과정

그림2. 분석 과정

Ion Torrent S5 Application

표적 염기서열 분석(Targeted Resequencing)

  • 전장 유전체 염기서열분석을 대체하는 빠르고 경제적인 방법
  • 10ng DNA 또는 5ng RNA 만으로 수천 개의 표적 증폭(FFPE 가능)
  • Ready-to-Use panels or Community panels
  • 자신만의 Custom panel 디자인 가능
(1) 표적염기서열 분석용 Ready-to-Use Panels
Ready-to-Use Panels
Name Panel Name Contents
Cancer Hotspot Panel v2 Hotspots regions, including ~2,800 COSMIC mutations of 50 oncogenes and tumor suppressor genes, with wide coverage of the KRAS, BRAF and EGFR genes.
207 Amplicons
Comprehensive Cancer Panel Exons within 409 oncogenes and tumor suppressor genes
16,000 Amplicons
Inherited Disease Panel The coding exons of over 300 genes associated with over 700 unique inherited diseases, including neuromuscular, cardiovascular, developmental, and metabolic diseases
10,000 Amplicons
(2) 표적염기서열 분석용 Community Panels
Community Panels
Name Panel Name Contents
BRCA1 and BRCA2 Panel BRCA1 and BRCA2 genes
167 amplicons
CDS 100%
Colon and Lung Research Panel V2 KRAS, EGFR, BRAF, PIK3CA, AKT1, ERBB2, PTEN, NRAS, STK11, MAP2K1, ALK, DDR2, CTNNB1, MET, TP53, SMAD4, FBX7, FGFR3, NOTCH1, ERBB4, FGFR1, FGFR2
CFTR Panel This panel allows you to analyze all coding exons, intron-exon boundaries and UTRs of CFTR with 102 amplicons, including the >160 mutations from CFTR2.org research database.
TP53 Panel The tumor suppressor protein p53 is encoded by the TP53 gene
AML Panel Entire coding regions : CEPBA, DNMT3A, GATA2, TET2, TP53
Hotspot regions : ASXL1, BRAF, CBL, FLT3, IDH1, IDH2, JAK2, KIT, KRAS, NPM1, NRAS, PTPN11, RUNX1, WT1
Dementia Research Gene Panel PRNP, PSEN1, PSEN2, APP, GRN, MAPT, TREM2, CHMP2B, CSF1R, FUS, ITM2B, NOTCH3, SERPINI1, TARDBP, TYROBP, VCP, SQSTM1
Hearing Loss Research Panel v1 The panel assesses 63 genes known to mutations causal of hearing. This panel contains 2,064 amplicons in 2 pools.
RNA fusion Lung Cancer Research Panel ALK, RET, ROS1, and NTRK1 fusion transcripts, in addition to targets designed to detect 5' and 3' ALK gene expression.
(3) Others : Inherited Disease Research Panels
Community Panels
IonAmpliSeq Panel # genes # amplicons
Cardiovascular Research Panel(심혈관 질환) 424 10,490
Deafness Research Panel (난청) 124 3,403
Dermatology Research Panel (피부과) 214 4,818
Dysmorphia-Dysplasia Research Panel (형태이상, 형성장애) 389 8,949
Endocrinal Panel (내분비) 310 5,618
Gastrointestinal Research Panel (위장) 189 3,917
Hematology Research Panel (혈액학) 404 7,427
Inborn Errors of Metabolism Research Panel (선천성 대사장애증) 570 9,248
Neurological Research Panel (신경계) 757 18,093
Ophthalmic Research Panel (안과) 330 7,289
Primary Immuno Deficiency Research Panel (원발성면역결핍) 266 5,109
Pulmonary Research Panel (폐) 130 3,359
Renal Research Panel (신장) 96 2,607

전사체 염기서열분석(RNA-Seq)

  • Targeted RNA sequencing : 원하는 유전자만 선별적으로 분석
  • Transcriptome Sequencing : rRNA를 제외한 모든 RNA 유전자
  • mRNA sequencing : Poly-T oligo를 통해 mRNA만 분석
  • Small RNA sequencing : miRNA, siRNA, piRNA 분석
전사체 염기서열분석(RNA-Seq)
Name Panel Name Contents
RNA Cancer Panel 50 oncogenes and tumor suppressor genes with coverage of KRAS, BRAF and EGFR genes.
ABL1, EZH2, JAK3, PTEN, AKT1, FBXW7, IDH2, PTPN11, ALK, FGFR1, KDR, RB1, APC, FGFR2, KIT, RET, ATM, FGFR3, KRAS, SMAD4, BRAF, FLT3, MET, SMARCB1, CDH1, GNA11, MLH1, SMO, CDKN2A, GNAS, MPL, SRC, CSF1R, GNAQ, NOTCH1, STK11, CTNNB1, HNF1A, NPM1, TP53, EGFR, HRAS, NRAS, VHL, ERBB2, IDH1, PDGFRA, ERBB4, JAK2, PIK3CA
RNA Apoptosis Panel 267 genes involved in the cellular apoptosis pathway. Included are genes associated with death receptor-mediated apoptosis, c-Myc, and p53-mediated apoptosis.
TaqMan® validated
RNA Custom Panel Target any gene
300 genes in single tube

엑솜 염기서열분석(Exome Sequencing)

- 준비중입니다. -

미생물 염기서열분석

- 준비중입니다. -

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