A comprehensive assessment of Next‐Generation Sequencing variants validation using a secondary technology
Author:
Affiliation:
1. BGI Education Center University of Chinese Academy of Sciences Shenzhen China
2. BGI Clinical Laboratories‐Shenzhen, BGI‐Shenzhen Shenzhen China
3. BGI Genomics, BGI‐Shenzhen Shenzhen China
4. BGI‐Shenzhen Shenzhen China
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.748
Reference16 articles.
1. Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing
2. Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants
3. Coming of age: ten years of next-generation sequencing technologies
4. A reference human genome dataset of the BGISEQ-500 sequencer
5. Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk
Cited by 18 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Sanger validation of WGS variants - when to?;2024-04-25
2. Mycobacterium tuberculosis Lineage Distribution Using Whole-Genome Sequencing and Bedaquiline, Clofazimine, and Linezolid Phenotypic Profiles among Rifampicin-Resistant Isolates from West Java, Indonesia;International Journal of Microbiology;2024-03-04
3. A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome;npj Genomic Medicine;2024-02-07
4. Challenges and best practices in omics benchmarking;Nature Reviews Genetics;2024-01-12
5. Every CFTR variant counts – Target-capture based next-generation-sequencing for molecular diagnosis in the German CF Registry;Journal of Cystic Fibrosis;2023-10
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3