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Service

This section provides basic information about Service

Whole exome/Targeted sequencing

Overview

Whole Exome/Targeted sequencing 은 전체 유전체상에서 coding region(Exon)이나 원하는 부위만을 캡쳐 또는 증폭하여 선택적으로 분석하는 방법으로 유전체상에 나타난 Single nucleotide polymorphism(SNP)뿐만 아니라 insertion, deletion 을 확인 가능하며 이러한 분석 결과를 토대로 rare disease, cancer genomics, 임상질환 유전체 연구에 활용할 수 있습니다.
연구목적에 꼭 필요한 부위만을 골라 특화된 Custom Panel 제작이 가능합니다.

illumina

Workflow

SureSelect exome

Twist complete exome

SureSelect custom

Twist custom

Input amount

200ng, 1µg, 3µg

50ng

200ng, 1µg, 3µg

50ng

Target size

50~75Mb

33.05Mb

customized

customized

Pooling Balance

Post-capture pooled

Pre-capture pooling

Post-capture pooled

Pre-capture pooling

vendor

Agilent

Twist bioscience

Agilent

Twist bioscience

Sequencer

NovaSeq 6000

NovaSeq 6000

NovaSeq 6000

NovaSeq 6000

Sample requirements

SureSelect XT

Twist

Sample type

gDNA

gDNA

QC포함 필요량

2µg or 4µg

500ng

Read length

2X100 PE

2X100 PE

Turnaround time

About 6 weeks

Bioinformatics

Agilent SureSelect

Twist Bioscience

PacBio

Additional

Data Report

  1. Human/Mouse and Etc Exome Sequencing Analysis
  2. Available Custom Panel Design
  3. Germline/Somatic Mutation Analysis
  1. Human Core Exome Sequencing Analysis
  2. Available Custom Panel Design
  3. Germline/Somatic Mutation Analysis
  1. Long Amplicon Analysis (1kb~15kb)
  1. Rare Variant Analysis
  2. Somatic Copy Number Alteration Analysis
  3. Advanced Precision Variant Analysis
  1. Sequencing Summary
  2. Alignment Summary
  3. Depth Coverage Plot
  4. Genotype Calling and SNP detection
  5. Germline & Somatic Variant Summary and Annotation