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Detection of somatic, subclonal and mosaic CNVs from sequencing

通过测序检测体细胞、亚克隆和嵌合 CNV

基本信息

批准号：
10399434
负责人：
ALEXEJ ABYZOV
金额：
$ 56.14万
依托单位：
MAYO CLINIC ROCHESTER
依托单位国家：
美国
项目类别：
财政年份：
2018
资助国家：
美国
起止时间：
2018-05-01 至 2024-04-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10399434
关键词：
Address Aftercare Area Attention Basic Science Biology Cancer Diagnostics Cells Clinic Clinical Clinical Research Clinical Treatment Collaborations Colon Carcinoma Colorectal Cancer Communities Computer software Copy Number Polymorphism Coupled Data Detection Development Disease Documentation Effectiveness Environment Foundations Frequencies Future Gene Frequency Genetic Variation Genome Genomics Goals Health Human Human Genetics Human body Individual Lead Life Maintenance Malignant Neoplasms Malignant neoplasm of ovary Medical Medicine Methods Mosaicism Neoplasm Metastasis Organ Patients Performance Persons Polyps Predisposition Procedures Process Prognosis Quality Control Quality of life Relapse Reporting Research Research Project Grants Residual state Resolution Sampling Scientist Screening for cancer Signal Transduction Structure Techniques Technology Testing Tissues Variant analytical tool cancer invasiveness chemotherapy clinical care clinical diagnostics clinical practice clinically relevant computer framework digital disorder prevention exome sequencing expectation genetic variant genome sequencing individual response individualized medicine neuroendocrine cancer novel parallelization personalized medicine reference genome side effect simulation software development tool treatment choice treatment response tumor progression whole genome

项目摘要

Project Summary/Abstract Progress in technology has made individual genome sequencing a clinical reality, with partial genome sequencing already in use in clinical care. In fact, it is expected that within a few years whole genome sequencing will be a standard procedure that will allow discovering personal genomic variants of all types and thus greatly facilitate individualized medicine. However, fast and reliable analysis of such data is challenging; and improvements in analytics are needed before the clinical potential of whole genome sequencing can be realized. Specifically, copy number variations account for a large proportion of human genetic diversity, are frequently observed in cancer, and have been associated with multiple diseases, cancer susceptibility, cancer progression and invasiveness, individual response to treatment, and patients' quality of life after treatment (i.e., emergence of side effects). Therefore, comprehensive identification and analysis of copy-number variants will help us more fully elucidate the biology of their functional effects on human health (in particular, for cancer emergence and progression) and will facilitate clinical diagnostics and treatment. However, abilities to detect CNVs/CNAs from sequencing are not fully utilized due to immature analytical approaches. This proposal suggests continuing development and enhancement of analytical approaches for the detection of copy number variants and aberrations from sequencing data. Historically, the development of concepts, techniques, and methods in the basic sciences has been followed by their transition and use in applied areas. Specifically, advances in biology lead to applications in medicine. The developments we propose anticipate many forthcoming applications of whole genome sequencing in medicine, and set up a computational framework to power clinical care with tools for copy number variants discovery and analysis. 3

项目总结/摘要技术的进步已经使个体基因组测序成为临床现实，部分基因组测序已在临床护理中使用。事实上，预计在几年内，测序将是一个标准程序，将允许发现所有类型的个人基因组变异，从而极大地方便了个体化用药。然而，对此类数据进行快速可靠的分析具有挑战性; 在全基因组测序的临床潜力可以实现之前，实现了具体而言，拷贝数变异占人类遗传多样性的很大比例，在癌症中经常观察到，并与多种疾病、癌症易感性、癌症进展和侵袭性、个体对治疗的反应以及患者治疗后的生活质量（即，出现副作用）。因此，全面鉴定和分析拷贝数变异将帮助我们更全面地阐明它们对人类健康（特别是癌症）的功能性影响的生物学出现和进展），并将促进临床诊断和治疗。然而，由于不成熟的DNA序列，从测序中检测CNV/CNA的能力没有得到充分利用。分析方法。这项提议建议继续发展和加强分析性的从测序数据中检测拷贝数变异和畸变的方法。从历史上看，基础科学中概念、技术和方法的发展一直是其次是它们在应用领域的过渡和使用。具体来说，生物学的进步导致了药我们提出的发展预期了许多即将到来的全基因组应用医学测序，并建立了一个计算框架，为临床护理提供复制工具数字变体发现和分析。 3