Microsatellite Sequencing to Enable Cancer Genotyping

微卫星测序可实现癌症基因分型

基本信息

批准号：
9756344
负责人：
Anna Schibel
金额：
$ 31.93万
依托单位：
ELECTRONIC BIOSCIENCES, INC.
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：
2018-08-06 至 2021-07-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9756344
关键词：
Automobile Driving Back Basic Cancer Research Biological Sciences Biopsy Bladder Brain Breast Cancer cell line Cancerous Capillary Electrophoresis Cells Colon Colon Carcinoma Consensus Sequence Consumption DNA DNA Sequence Development Diagnostic Electronics Engineering Enzymes Evaluation Genome Genotype Goals Gold Government Head and neck structure Healthcare Hemolysin Human Human Genome Investigation Kidney Knowledge Length Liver Location Lung Malignant Neoplasms Measurement Methodology Methods Microsatellite Instability Microsatellite Repeats Motor Mutate Mutation Nucleotides Ovarian Patient Care Patients Persons Polymerase Population Predisposition Preparation Process Prostate Proteins Resolution Sampling Sensitivity and Specificity Single Nucleotide Polymorphism Skin Source Survival Rate Technology Third Generation Sequencing Thyroid Gland Time base cancer cell cancer type clinical application clinical diagnostics colon cancer cell line improved insertion/deletion mutation interest nanopore next generation sequencing novel strategies outcome forecast prevent prognostic prognostic assays programs single molecule synthetic construct

Automobile Driving Back Basic Cancer Research Biological Sciences Biopsy Bladder Brain Breast Cancer cell line Cancerous Capillary Electrophoresis Cells Colon Colon Carcinoma Consensus Sequence Consumption DNA DNA Sequence Development Diagnostic Electronics Engineering Enzymes Evaluation Genome Genotype Goals Gold Government Head and neck structure Healthcare Hemolysin Human Human Genome Investigation Kidney Knowledge Length Liver Location Lung Malignant Neoplasms Measurement Methodology Methods Microsatellite Instability Microsatellite Repeats Motor Mutate Mutation Nucleotides Ovarian Patient Care Patients Persons Polymerase Population Predisposition Preparation Process Prostate Proteins Resolution Sampling Sensitivity and Specificity Single Nucleotide Polymorphism Skin Source Survival Rate Technology Third Generation Sequencing Thyroid Gland Time base cancer cell cancer type clinical application clinical diagnostics colon cancer cell line improved insertion/deletion mutation interest nanopore next generation sequencing novel strategies outcome forecast prevent prognostic prognostic assays programs single molecule synthetic construct

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项目摘要

Project Summary Electronic BioSciences (EBS) will investigate and develop methodologies to accurately sequence microsatellite regions within the human genome to enable cancer genotyping. Microsatellites are simple/short repeats (1-10 nucleotides in length) that occur in tandem 5-50 times, and are among the most variable types of DNA sequence in the genome. Mutations to these microsatellite regions include expansion or contraction of the repeat number, single nucleotide polymorphisms (SNPs), and/or insertions or deletions (indels), which have been documented with cancer predisposition, cancer onset, and/or prognosis for many types of cancer, including colon, breast, bladder, brain, head and neck, skin, thyroid, kidney, prostate, lung, ovarian, and liver. To date, however, there is no technology presently available that is ideally suited for microsatellite sequencing/characterization, which has significantly limited the understanding of microsatellite mutations and the development of associated diagnostic/prognostic assays. During this two-year program, EBS will focus on developing the methodology to sequence and genotype microsatellites from colon cancer cell lines via direct, electronic, nanopore-based, single-molecule sequencing. The investigations performed during this program will enable new approaches to probe the human genome with unprecedented detail in order to relate and statistically characterize microsatellite sequences that signify a specific cancer type, predisposition, onset, and/or prognosis, directly improving basic cancer research and enabling eventual improved clinical diagnostics and/or prognostics technologies.

项目摘要电子生物科学（EBS）将研究和开发方法，以准确序列微卫星人类基因组中的区域以实现癌症基因分型。微卫星是简单/简短的重复（1-10 长度为5-50次的长度），是DNA序列最可变的类型之一在基因组中。这些微卫星区域的突变包括重复数的扩展或收缩，单核苷酸多态性（SNP）和/或插入或缺失（indels），已记录有许多类型的癌症，包括结肠，乳腺癌，膀胱，大脑，头部和颈部，皮肤，甲状腺，肾脏，前列腺，肺，卵巢和肝脏。但是，到目前为止，目前尚无技术可用的技术，适用于微卫星测序/表征，明显限制了对微卫星突变的理解和相关的发展诊断/预后测定。在这个为期两年的计划中，EB将专注于开发方法来自结肠癌细胞系的序列和基因型微卫星通过直接，电子，基于纳米孔的单分子测序。在此计划中执行的调查将使新方法用前所未有的细节探测人类基因组，以与微卫星的关系和统计学特征表示特定癌症类型，易感性，发作和/或预后的序列，直接改善基本癌症研究并最终改善了临床诊断和/或预后技术。