Whole genome sequencing 전장유전체 서열결정(DNA sequencing).
Genome을 읽기 위해선 쪼개서 읽은 뒤, 컴퓨터의 도움으로 재조립(Sequence assembly)해야 함. NGS 기술이 널리 사용되면서 대용량 서열결정이 가능해 짐. 전체 유전체가 아닌, 엑솜 부분만을 골라서 서열결정할 수도 있음. 이를 Exome sequencing이라고 한다. (WES, Whole exome sequencing)
Table of Contents
관련 링크 #
논문 #
- Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants PNAS : Exome sequencing에 비해 훨씬 정확하므로 WGS 해야 한다고.
분석 #
- Whole genome trio variant calling evaluation: low complexity regions, GATK VQSR and high depth filters in Blue Collar Bioinformatics
교육 #
정보 #
Incoming Links #
[Medical Scholarly Articles] About (MedicalScholarlyArticle 0) #
- Landscape of somatic mutations in 560 breast cancer whole-genome sequences
- Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals
Related Datasets (Dataset 1) #
Related Articles (Article 2) #
Related Education Events (EducationEvent 3) #
Related Medical Conditions (MedicalCondition 4) #
Related Medical Scholarly Articles (MedicalScholarlyArticle 5) #
- A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns
- Landscape of somatic mutations in 560 breast cancer whole-genome sequences
- 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
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