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Exome sequencing (also known as Whole exome sequencing or WES) is a technique for sequencing all the protein-coding genes in a genome (known as the exome). (http://en.wikipedia.org/wiki/Exome_sequencing)
전체 유전체에서 엑손 영역만 Targeted DNA sequencing한다. 보통 7,8만개의 SNV 정보를 알려줌
Table of Contents
From Genomics and Precision Medicine #
Why study just the exome?
- More predicable effect of mutations
- >85% of known mutations for rare Mendelian disorders occur in the exome
- Cheaper, faster and easier to analysis just 2% rather than the entire genome (Whole genome sequencing)
What WES can reliably detect?
- Small variants(SNVs or small indels) - Read depth
- Some CNVs
- Not larger indels or trinucleotide repeats
- Exon deletions are hit-or-miss using depth of coverage measures
관련링크 #
논문 #
- Opportunities and challenges of whole-genome and -exome sequencing BMC Genetics : WGS, WES로 유전질환 마커를 찾을 수 있는가
- A fremawork for the interpretation of de novo mutation in human disease Nature Genetics
- Review of Current Methods, Applications, and Data Management for the Bioinformatics Analysis of Whole Exome Sequencing Cancer Informatics
- Clinical whole-exome sequencing: are we there yet? Genetics in Medicine : 임상에서 쓰기엔 아직 무리? 23% 성공율
Incoming Links #
[Medical Scholarly Articles] About (MedicalScholarlyArticle 0) #
[Codes] About (Code 1) #
Related Datasets (Dataset 2) #
Related Articles (Article 3) #
- A fremawork for the interpretation of de novo mutation in human disease
- CNV calling from NGS data
- CODEX: a normalization and copy number variation detection method for whole exome sequencing
- Cell-free tumor DNA
- Copy-number variation
- Metastasis
- Opportunities and challenges of whole-genome and -exome sequencing
- Personalized medicine
- SNV calling from NGS data
- WGS
- 암 맞춤의학과 생물정보학
Related Education Events (EducationEvent 4) #
[Datasets] About (Dataset 5) #
[Web Pages] About (WebPage 6) #
Related Medical Conditions (MedicalCondition 7) #
Related Medical Scholarly Articles (MedicalScholarlyArticle 8) #
- A fremawork for the interpretation of de novo mutation in human disease
- An evaluation of copy number variation detection tools from whole-exome sequencing data
- Analytical and Clinical Validation of a Digital Sequencing Panel for Quantitative, Highly Accurate Evaluation of Cell-Free Circulating Tumor DNA
- CODEX: a normalization and copy number variation detection method for whole exome sequencing
- Comprehensive molecular portraits of human breast tumours
- Gene-based comparative analysis of tools for estimating copy number alterations using whole-exome sequencing data
- Human genetic variation database, a reference database of genetic variations in the Japanese population
- SAAS-CNV: A Joint Segmentation Approach on Aggregated and Allele Specific Signals for the Identification of Somatic Copy Number Alterations with Next-Generation Sequencing Data
- Sequence analysis of mutations and translocations across breast cancer subtypes
Related Codes (Code 9) #
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